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How to test for mthfr

What is an MTHFR mutation test?

This test looks for mutations (changes) in a gene called MTHFR. Genes are the basic units of heredity passed down from your mother and father.

Everyone has two MTHFR genes, one inherited from your mother and one from your father. Mutations can occur in one or both MTHFR genes. There are different types of MTHFR mutations. An MTHFR test looks for two of these mutations, also known as variants. The MTHFR variants are called C677T and A1298C.

The MTHFR gene helps your body break down a substance called homocysteine. Homocysteine is a type of amino acid, a chemical your body uses to make proteins. Normally, folic acid and other B vitamins break down homocysteine and change it into other substances your body needs. There should then be very little homocysteine left in the bloodstream.

If you have an MTHFR mutation, your MTHFR gene may not work right. This may cause too much homocysteine to build up in the blood, leading to various health problems, including:

  • Homocystinuria, a disorder that affects the eyes, joints, and cognitive abilities. It usually starts in early childhood.
  • An increased risk of heart disease, stroke, high blood pressure, and blood clots

In addition, women with MTHFR mutations have a higher risk of having a baby with one of the following birth defects:

  • Spina bifida, known as a neural tube defect. This is a condition in which the bones of the spine do not completely close around the spinal cord.
  • Anencephaly, another type of neural tube defect. In this disorder, parts of the brain and/or skull may be missing or deformed.

You can reduce your homocysteine levels by taking folic acid or other B vitamins These can be taken as supplements or added through dietary changes. If you need to take folic acid or other B vitamins, your health care provider will recommend which option is best for you.

Other names: plasma total homocysteine, methylenetetrahydrofolate reductase DNA mutation analysis

What is it used for?

This test is used to find out if you have one of two MTHFR mutations: C677T and A1298C. It is often used after other tests show you have higher than normal homocysteine levels in the blood. Conditions such as high cholesterol, thyroid disease, and dietary deficiencies can also raise homocysteine levels. An MTHFR test will confirm whether the raised levels are caused by a genetic mutation.

Even though an MTHFR mutation brings a higher risk of birth defects, the test is not usually recommended for pregnant women. Taking folic acid supplements during pregnancy can greatly reduce the risk of neural tube birth defects. So most pregnant women are encouraged to take folic acid, whether or not they have an MTHFR mutation.

Why do I need an MTHFR mutation test?

You may need this test if:

  • You had a blood test that showed higher than normal levels of homocysteine
  • A close relative was diagnosed with an MTHFR mutation
  • You and/or close family members have a history of premature heart disease or blood vessel disorders

Your new baby may also get an MTHFR test as part of routine newborn screening. A newborn screening is a simple blood test that checks for a variety of serious diseases.

What happens during an MTHFR mutation test?

A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.

For a newborn screening, a health care professional will clean your baby’s heel with alcohol and poke the heel with a small needle. He or she will collect a few drops of blood and put a bandage on the site.

Testing is most often done when a baby is 1 to 2 days old, usually in the hospital where he or she was born. If your baby wasn’t born in the hospital or if you have left the hospital before the baby could be tested, talk to your health care provider about scheduling testing as soon as possible.

Will I need to do anything to prepare for the test?

You don’t need any special preparations for an MTHFR mutation test.

Are there any risks to the test?

There is very little risk to you or your baby with MTHFR testing. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.

Your baby may feel a little pinch when the heel is poked, and a small bruise may form at the site. This should go away quickly.

What do the results mean?

Your results will show whether you are positive or negative for an MTHFR mutation. If positive, the result will show which of the two mutations you have, and whether you have one or two copies of the mutated gene. If your results were negative, but you have high homocysteine levels, your health care provider may order more tests to find out the cause.

Regardless of the reason for high homocysteine levels, your health care provider may recommend taking folic acid and/or other vitamin B supplements, and/or changing your diet. B vitamins can help bring your homocysteine levels back to normal.

If you have questions about your results, talk to your health care provider.

Is there anything else I need to know about an MTHFR mutation test?

Some health care providers choose to only test for homocysteine levels, rather than doing a MTHFR gene test. That is because treatment is often the same, whether or not high homocysteine levels are caused by a mutation.

How to Test for MTHFR

Depression. Autism. Breast cancer. Alcoholism. Type 1 diabetes. Heart disease. What do these supposedly have in common? Many alternative health websites like to talk about a supposed link between these conditions and a gene called MTHFR—but there’s no indisputable evidence that the link really exists.

If you’re unfamiliar with the MTHFR gene, it stands for methylenetetrahydrofolate reductase, which is an enzyme the body needs to process certain substances. And if it doesn’t work properly, lots of people think it can cause all sorts of health issues, like those mentioned—but this is an extremely simplified way of thinking about MTHFR variations, and I’ll break it down much further for you.

As an epidemiologist, this subject isn’t new to me. But the topic of MTHFR gene variants and mutations seems to be having a moment in the wellness space.

I’m a researcher, so I keep tabs on what’s being talked about around the web, on social media, and in places like mommy forums with regard to health and wellness. And I notice that the fearmongering conversation surrounding MTHFR gene variants resurfaces every now and again.

I see threads on MTHFR gene variants and the alleged health problems they cause pop up almost daily in some of the forums I keep tabs on, as well as new blog posts on natural, holistic wellness websites (which I’d define as sites that tout medical treatments that generally are not viewed as part of mainstream medicine) warning that it’s crucial to get tested for a potential MTHFR abnormality. And it turns into a modern-day game of telephone.

What’s more, a number of alternative medicine sites even offer products like specialty vitamins or health programs marketed for individuals with MTHFR variants, with some treatments costing thousands of dollars. A number of outlets also suggest that having a MTHFR gene variant is a contraindication for vaccination—and they use this (unverified) assertion to justify avoiding vaccines.

The huge problem? There’s no convincing or conclusive scientific evidence to prove that all MTHFR variations are linked to health issues. So before you even worry about whether a MTHFR gene variant could be affecting you, here’s what you really need to know about the gene and the role it plays in your overall health.

What is the MTHFR gene, and how does it work?

As I mentioned, its normal function is to produce an enzyme called methylenetetrahydrofolate reductase in the body. And there are a few common variants, but they aren’t dangerous.

Methylenetetrahydrofolate reductase helps process amino acids, which are the building blocks of protein. More specifically, methylenetetrahydrofolate reductase converts the amino acid homocysteine to another, methionine. This is an important job because if the body can’t process homocysteine properly, it can lead to a buildup of homocysteine in the body, a condition called homocystinuria, which can cause health issues. But we’ll get to that.

Now, there are a lot of individuals who have variant in the MTHFR gene, meaning that there is some amount of alteration in the DNA sequence that makes up that gene. But it’s a common misconception that any amount of change in the DNA automatically implies that there will be health consequences associated with that variant.

For instance, lots of people have two common MTHFR variants: C677T and A1298C. While other variants exist, these two are the best-studied changes in the MTHFR gene, and “are very common in the Caucasian population,” Charis Eng, M.D., founding chairwoman of the Genomic Medicine Institute at the Cleveland Clinic, tells SELF. She adds that these variants are present in roughly 40 percent of people.

Dr. Eng also refers to them explicitly as “variants” and not “mutations,” as the latter suggests harm, which is actually very rarely seen in individuals carrying one of these two common variants. (Many websites/forums use these terms interchangeably, which is part of the problem, or they don’t specify if they mean a true mutation or are talking about these common variants.) In fact, having a single copy of these variants doesn’t decrease the activity of the enzyme. “Homocysteine levels have been measured in people with [one of these variants], and homocysteine levels are normal in [those] individuals,” Dr. Eng explains.

This is key when it comes to examining how common MTHFR variants affect a person’s health: An individual can function properly even with a lower-than-normal level of the enzyme, as long as there is enough of it to do its metabolic job of keeping homocysteine levels within a healthy range. So most people with these common variants would never even know they had one without genetic testing, as there aren’t any clear physical symptoms.

We don’t have definitive scientific research to suggest that these two MTHFR variants cause health effects.

To date, there are no large-scale, well-designed epidemiological studies that prove that either of these variants cause the health effects that these health forums commonly associate with them.

Take the claim that MTHFR variants up a person’s risk of developing heart disease, for example: Some older research suggested that those with some amount of C677T variation may be at a higher risk—while much newer, larger, and better-structured research actually found no evidence of an increased risk.

And there are thousands of studies that go back and forth like this in regards to hundreds of health conditions. It’s easy for media outlets, and in turn consumers, to fixate on any negative results, but this spreads worry and inaccurate health information when the definitive science just isn’t there.

There is an exception for which the research is more consistent: Some people with two copies of C677T may have elevated homocysteine, and research shows they could be at risk of having a baby with a neural tube defect. But, again that combination is uncommon. And for people who do have elevated homocysteine (which would be determined at the start of pregnancy via a blood test), it’s easily treatable with folate and/or B vitamin supplementation, and a doctor would help guide treatment.

Methylenetetrahydrofolate reductase, or MTHFR, is an enzyme that breaks down the amino acid homocysteine. The MTHFR gene that codes for this enzyme has the potential to mutate, which can either interfere with the enzyme’s ability to function normally or completely inactivate it.

People have two MTHFR genes, inheriting one from each of their parents. Mutations can affect one (heterozygous) or both (homozygous) of these genes.

There are two common types, or variants, of MTHFR mutation: C677T and A1298C.

Mutations in MTHFR genes occur in approximately 25% of people of Hispanic descent and 10–15% of North American Caucasians.

These mutations in rare occasions lead to high levels of homocysteine in the blood, which may contribute to numerous health conditions, such as:

In this article, we look at MTHFR mutations in more detail, including related health conditions, diagnosis, and treatment options. We also discuss how MTHFR mutations can affect pregnancy.

How to Test for MTHFR

Share on Pinterest A doctor may examine a person’s medical history when diagnosing a MTHFR mutation.

Mutations in the MTHFR gene can affect the body’s ability to process amino acids — namely homocysteine — which can lead to adverse health outcomes.

Conditions that researchers have associated with MTHFR gene mutations include:

  • homocystinemia, which is the term for abnormally high levels of homocysteine in the blood or urine
  • ataxia, a neurological condition that affects coordination
  • peripheral neuropathy, a neurological condition that damages the nerves
  • microcephaly, a condition present at birth in which the head is smaller than usual
  • scoliosis, an abnormal curvature of the spine
  • anemia, which means that a person has a lack of healthy red blood cells
  • cardiovascular diseases, such as blood clots, strokes, and heart attacks
  • mental health and behavior disorders, such as depression and attention deficit hyperactivity disorder (ADHD)

Symptoms vary both among individuals and depending on the type of mutation. People usually do not know that they have an MTHFR mutation unless they experience severe symptoms or undergo genetic testing.

Having one or two MTHFR mutations can slightly increase the levels of homocysteine present in the blood. This condition is called homocystinemia.

Homocysteine is an amino acid that the body produces by breaking down dietary proteins. High levels of homocysteine can damage blood vessels and lead to blood clots. People who have high homocysteine levels tend to have low levels of vitamin B-12.

Symptoms of homocystinemia due to MTHFR mutations include:

  • abnormal blood clotting
  • developmental delays
  • seizures
  • microcephaly
  • blood clots
  • poor coordination
  • numbness or tingling in the hands and feet

How to Test for MTHFR

You may have seen the abbreviation “MTHFR” pop up in recent health news. It might look like a curse word at first glance, but it actually refers to a relatively common genetic mutation.

MTHFR stands for methylenetetrahydrofolate reductase. It’s getting attention due to a genetic mutation that may lead to high levels of homocysteine in the blood and low levels of folate and other vitamins.

There’s been concern that certain health issues are associated with MTHFR mutations, so testing has become more mainstream over the years.

You can have either one or two mutations — or neither — on the MTHFR gene. These mutations are often called variants. A variant is a part of a gene’s DNA that’s commonly different, or varies, from person to person.

Having one variant — heterozygous — is less likely to contribute to health issues. Some people believe having two mutations — homozygous — may lead to more serious problems. There are two variants, or forms, of mutations that can occur on the MTHFR gene.

Specific variants are:

  • C677T. About 30 to 40 percent of the American population may have a mutation at gene position C677T. Roughly 25 percent of people of Hispanic descent, and 10 to 15 percent of Caucasian descent, are homozygous for this variant.
  • A1298C. There’s limited research regarding this variant. Available studies are generally geographically or ethnic-based. For example, a 2004 study focused on 120 blood donors of Irish heritage. Of the donors, 56, or 46.7 percent, were heterozygous for this variant, and 11, or 14.2 percent, were homozygous.
  • It’s also possible to acquire both C677T and A1298C mutations, which is one copy of each.

Gene mutations are inherited, which means you acquire them from your parents. At conception, you receive one copy of the MTHFR gene from each parent. If both have mutations, your risk of having a homozygous mutation is higher.

Symptoms vary from person to person and from variant to variant. If you do a quick internet search, you’ll likely find many websites claiming MTHFR directly causes a number of conditions.

Keep in mind that research around MTHFR and its effects is still evolving. Evidence linking most of these health conditions to MTHFR is currently lacking or has been disproven.

More than likely, unless you have problems or have testing done, you’ll never become aware of your MTHFR mutation status.

Conditions that have been proposed to be associated with MTHFR include:

  • cardiovascular and thromboembolic diseases (specifically blood clots, stroke, embolism, and heart attacks)
  • depression
  • anxiety
  • bipolar disorder
  • schizophrenia
  • colon cancer
  • acute leukemia
  • chronic pain and fatigue
  • nerve pain
  • migraines
  • recurrent miscarriages in women of child-bearing age
  • pregnancies with neural tube defects, like spina bifida and anencephaly

The risk is possibly increased if a person has two gene variants or is homozygous for the MTHFR mutation.

How to Test for MTHFR

Of all the genes in the world of nutrigenomics, MTHFR is probably the best known. And with a whole range of diseases being blamed on MTHFR “mutations,” people are anxious to see their status.

First, a caveat – many of the conversations surrounding MTHFR are speculative at best. Getting genetic data and hyper focusing on any one SNP or “mutation” is probably not a good idea if you enjoy keeping stress levels low.

If you want a clear picture of where we think things stand with MTHFR research, have a listen to the podcast episode we did recently on the latest science on MTHFR.

But this isn’t a blog on the conditions linked to MTHFR, it’s a blog about how to find your MTHFR status.

Happily, this is a task that has gotten a lot easier as of late, but you will have had to have done some basic testing first. If you have a 23andme account, you can login and see your MTHFR status in a few simple steps.

MTHFR for 23andme users

Step #1 – login and select “browse raw data”

23andme has made it much easier to navigate to your raw data file from the dashboard of a logged in account.

How to Test for MTHFR

Step #2 – search MTHFR

Once you arrive at the raw data screen, you cam search genes by name and see your call for the various SNPs they report on. There are many different MTHFR genes, although we will focus on a couple that are thought to be most clinically relevant. As you can see from the screen below, I typed in MTHFR directly into the 23andme search bar.

How to Test for MTHFR

Step #3 – find the right version of the MTHFR gene

Once you arrive at the raw data search field for 23andme, you simply scroll down the page and find the relevant version of MTHFR. You will see numerous results with your status for each under the “Your Genotype” column.

How to Test for MTHFR

The most researched MTHFR variants are MTHFR C677T (rs1801133) and MTHFR A1298C (rs1801131). First, stop and notice how similar the rsID numbers are for these genes! Next, scroll the “Marker / SNP” column and find these variants.

Minor allele for A1298C is – C or G.

Minor allele for C677T is – T or A.

If 23andme shows one copy of the minor allele that represents a “heterozygous” mutation. If two copies, that is a homozygous mutation. Here you can see Here, you can see my call for MTHFR C677T is G/G, meaning I do not carry a risk allele.

Other options

Sites like Genetic Genie will give a full report on methylation genes (including MTHFR) if you download the raw data from 23andme and upload to that platform.

We also have a blog post on our site detailing the various sites that process 23andme raw data.

MTHFR is also one of the genes we report on in our custom nutrition plans.

How to Test for MTHFR

As a geneticist and researcher, I believe in the power of genetic testing. By identifying genetic mutations, we can improve care and save lives.

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

But just because we can test something doesn’t always mean we should.

Take the MTHFR gene, for example. MTHFR codes for an enzyme that helps your body convert homocysteine into an amino acid that processes proteins. People with mutations or variations of MTHFR may end up with homocystinuria, a disorder that affects the eyes, joints and other parts of the body. High homocysteine levels also have been connected to heart disease and strokes.

“Keeping an eye on which tests truly improve care and which ones may waste money is more important than ever.”

How to Test for MTHFR

Charis Eng, MD, PhD

Founding Chairwoman of the Genomic Medicine Institute

There is a genetic test for MTHFR variations. But there’s also a cheaper and more accurate way to test for whether MTHFR variations are causing disease. We simply check the levels of homocysteine in the blood. If levels are high, we can react appropriately. If homocysteine levels are normal — even if there is an MTHFR variation — then nothing needs to be done clinically.

In other words, the homocysteine levels determine our actions, not the MTHFR test results.

Simple test, simple solutions

Not only is the test for homocysteine levels simple, but so are the solutions. People with high homocysteine levels typically respond well to supplementation with vitamins such as B6, B12, and folate or folic acid.

The same is true of other disorders that might be related to MTHFR. For example, mutations in MTHFR have been associated with some neural tube defects in babies. But rather than having an unnecessary test for MTHFR gene variations, pregnant women should simply take prenatal vitamins that contain higher folate.

Folate effectively bypasses the problem — and it’s benign at the doses that come in vitamins.

Keeping care accountable

Variations of MTHFR have been studied in connection to stroke, high blood pressure and heart disease, as well as bipolar disorder and other conditions. But the associations have not been established as clear-cut. Until they are, most geneticists — myself included — feel a test for MTHFR is not necessary in the vast majority of cases.

In an era when affordable, accountable care is crucial, keeping an eye on which tests truly improve care and which ones may waste money is more important than ever.

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

If you have mthfr gene mutations. It’s vital that you understand the importance of the role that vitamin B12 plays. In the condition and which B12 is best for you. Because when it comes to vitamin B12 all are not created equal. Especially for those with mthfr. Vitamin B12 is an essential vitamin that is required to come from our diet. It is estimated that modern food production practices over many years have lost upwards of 75% of its vitamin B12 values. This is a big problem for anyone and this potentially represents an even bigger problem for people with mthfr gene mutations.

Vitamin B12 Deficiency symptoms & MTHFR

The usual symptoms for a B12 deficiency include:

  • Poor hair condition
  • Eczema or dermatitis
  • Oversensitive mouth too hot and cold
  • Irritability
  • Anxiety
  • Tension
  • Lack of energy
  • Constipation
  • Tender or sore muscles
  • Pale skin

But it’s important to understand. When it comes to mthfr conditions that vitamin B12 works with other B complex vitamins. Especially folic acid or folate. Therefore the following symptoms of folate deficiency can also be a big indicator of a B12 deficiency such as:

  • Anemia
  • Eczema
  • Cracked lips
  • Prematurely greying hair
  • Anxiety
  • Tension
  • Poor memory
  • Lack of energy
  • Poor appetite
  • Stomach pains
  • Depression

What this means is your vitamin B12 levels can look good on paper after you have been to the doctor. But this doesn’t mean that you are able to use that B12 properly if you have mthfr gene mutations.

Because vitamins B12 and folate team up and work with each other and the fact that all other vitamins and minerals are affected by their relationship means that you can have any of the mthfr symptoms that are the direct result of multiple vitamin and mineral deficiencies that can’t be resolved by taking common multivitamin and mineral supplements.

Vitamin B12 and homocysteine

When you have mthfr gene mutations you lack the enzymes responsible for the conversion of folate that you eat into the active form 5-Methyltetrahydrofolate. However, this important reaction is then directly involved in the utilization of vitamin B12. Which is vitally important in the processing of homocysteine. So, if your vitamin B12 is not working properly because your folate metabolism isn’t working properly this causes homocysteine imbalances which are considered a serious health problem for anyone especially for those with mthfr gene mutations. If you are positive for mthfr a good homocysteine reading should be between 7 – 8 µmol/L and vitamin serum B12 levels should be above 500 – 800. If this is not the case you should seek a mthfr treatment.

Which B12 vitamin is best for MTHFR

Most people are aware of the benefits of having B vitamins in terms of taking nutritional supplements. More often than not people who take vitamin B complex supplements may be doing themselves more harm than good. When it comes to the mthfr condition. Most B complex supplements have two problems that dramatically affect those with mthfr gene mutations these include:

  • Folic acid
  • Vitamin b12 as cyanocobalamin

Folic acid is a synthetic “man-made” form of folate. Which actually interferes with the absorption of real folate in those with mthfr. This makes life much harder for those with the gene defect increasing the deficiency of the already reduced ability to absorb and use folate.

The “cyanocobalamin” version of B12 is made from cyanide which over time may have toxic effects, this form of B12 is not ideal and for those with mthfr gene mutations, it can more often than not be harder for their body to use vs other forms of B12. This synthetic “man-made” form of vitamin B12 has low biological activity. This means that it has to be converted in the liver to become a more active form so it can be used. Those with existing gene mutations may have more trouble breaking down the cyanocobalamin version of B12 which is not ideal.

The best type of B12 vitamin for mthfr is very much dependent on the following:

  • Which type of mthfr gene mutation you are diagnosed with
  • The symptoms you experience with mthfr
  • Your family history of the disease
  • Your homocysteine balance
  • If you are a smoker or have smoked in the past
  • Your blood pressure
  • Your diet
  • Mental status

It’s best to consult your mthfr practitioner about which form of B12 is best for your condition. Here are some of the forms of vitamin B12 used in cases of mthfr gene mutations:

  • Methylcobalamin (an active form of B12)
  • Hydroxycobalamin (a nitric oxide scavenger)
  • Adenosylcobalamin (energy production)

Depending on the type of gene you have been diagnosed with will depend on which B12 vitamin is right for you. In some instances taking the wrong one can cause unwanted symptoms. This is because there are often other mutations involved such as COMT (Catechol-O-Methyltransferase) that don’t respond well to certain B12 supplements.

Vitamin B12 Deficiency and methyl trapping

People with mthfr gene mutations often have hidden B12 deficiencies which causes the active form of folate 5-methyl THF or 5-methyltetrahydrofolate to become trapped, this is known as the methyl-folate trap, when this happens taking the mthfr recommended supplements can cause serious harm and should be avoided until the underlying reasons for the B12 deficiency can be addressed and the right type of B12 can be prescribed.

MTHFR & Vitamin B12

As you can see there are many reasons to consider B12 vitamins in the proper treatment of mthfr conditions, this vital nutrient can make a big difference to the outcome of a persons overall health but it is important to get it right. Vitamin B12 is not the only consideration but it does play a big role in how you respond to mthfr treatments. Because vitamin B12 works with almost every other vitamin and mineral directly and indirectly getting it working for you is vital in the proper treatment of mthfr.

The methylenetetrahydrofolate reductase gene, more commonly known as MTHFR, is the most asked-about gene by 23andMe customers. How to Test for MTHFR

Some websites and products have made bold claims that common genetic variants in MTHFR can cause a wide array of health conditions, ranging from blood clots and cancer to autism and migraines.

So we decided to dig deeper into the published scientific literature to evaluate the evidence.

Despite lots of research – and lots of buzz – the existing scientific data doesn’t support the vast majority of claims that common MTHFR variants impact human health.

The biology

Here’s what we know about MTHFR.

The MTHFR gene contains instructions for making an enzyme that’s important for metabolizing folate (also called folic acid or vitamin B9). MTHFR also helps our cells recycle homocysteine, a chemical in the blood, into methionine, a building block for proteins. [1]

We also know that there are two common naturally occurring variants in the MTHFR gene, called C677T and A1298C.

When the MTHFR gene has either of these two variants, the resulting MTHFR enzyme is slightly less active, and this can lead to decreased levels of folate and increased levels of homocysteine in the blood. [1]

The hype

Some websites have spread the idea that having one or two copies of an MTHFR variant can lead to dozens of negative health consequences. There are a couple problems with this claim. First, it’s unlikely that variants in a single gene could cause dozens of unrelated health problems. Second, the C677T and A1298C variants are very common: in some ethnicities, more than 50 percent of people have at least one copy of one of these variants. Most disease-causing genetic variants are not this common.*

Another claim about MTHFR is that people who carry an MTHFR variant should avoid foods that are fortified with folic acid. However, there’s no evidence that individuals with an MTHFR variant should reduce their folic acid intake.

The scientific evidence

Over the past two decades, scientists have examined associations between the MTHFR C677T and A1298C variants and more than 600 medical conditions. [2] Despite thousands of scientific publications, the evidence linking MTHFR to most of these health conditions is inconclusive or conflicting.

For example, some studies report an increased risk of heart disease for individuals with two copies of the C677T variant, [3] while other studies report no association with heart disease. [4]

The same is true for cancer, [5] [6] blood clots, [7] [8] and many other well studied health conditions. [1] [9] [10]

There is one exception: women with two copies of the C677T variant appear to have slightly increased risk of having a child with a neural tube defect like spina bifida. [11] [12] However, according to the National Institute of Child Health and Human Development, as well as other countries’ nationwide health programs, folic acid supplementation reduces the risk of neural tube defects in all pregnant women, including women with an MTHFR variant. [13]

The takeaway

Based on the existing data, scientists at 23andMe have concluded that people should not interpret their genotypes at the common MTHFR variants as having an effect on their health.

In order for a connection between a genetic variant and a health condition to be considered real and clinically meaningful, well-run scientific studies need to show convincing and consistent evidence for that association. As statements from multiple scientific and medical organizations indicate, [14] [15] that is currently not the case for the common MTHFR variants. Our team will continue to monitor research in this area – as we do for a wide variety of genetic research – and evaluate new information as it becomes available.

*Note: Some very rare variants in MTHFR can cause a severe condition called homocystinuria, which affects fewer than 1 in 200,000 people in most ethnicities. [16] These variants are different from the common variants described here and discussed throughout the 23andMe community and online.

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References:
Sources for Information

Websites and blogs are filled with misinformation about MTHFR. When you’re looking for information about science and health, make sure you find trustworthy sources.

Here are a few of our favorite sites for information about genetics, health, and disease:

Every human body has the gene 5-methyltetrahydrofolate. It’s also known as MTHFR.

MTHFR is responsible for the breakdown of folic acid, which creates folate. Some health conditions and disorders can result without enough folate, or with a malfunctioning MTHFR gene.

During pregnancy, women who test positive for a mutated MTHFR gene may have a higher risk for miscarriages, preeclampsia, or a baby born with birth defects, such as spina bifida.

Here’s what you need to know about getting tested for this gene and how it might affect your pregnancy.

MTHFR handles the breakdown of the vitamin folic acid. This breakdown leads to elevated levels of homocysteine. Homocysteine is a chemical produced from an amino acid in our bodies when folic acid breaks down. If folic acid isn’t broken down, it will block the body’s ability to have enough folate.

Hyperhomocysteinemia is a condition where the homocysteine levels are elevated. Hyperhomocysteinemia is often seen in people with a positive MTHFR mutation gene test. High homocysteine levels, especially with low folic acid levels, can lead to pregnancy complications that include:

  • miscarriage
  • preeclampsia
  • birth defects

Folate is responsible for:

  • making DNA
  • repairing DNA
  • producing red blood cells (RBCs)

When the MTHFR gene malfunctions, folic acid isn’t broken down. This is known as a mutated MTHFR gene. It’s not uncommon to have a mutated gene. In the United States, it’s estimated that around 25 percent of people who are Hispanic and up to 15 percent of people who are Caucasian have this mutation, according to the Genetic and Rare Diseases Information Center.

The positive MTHFR gene is passed from the parents to the child. Nothing causes you to have a mutated MTHFR gene. It’s simply passed onto you from your mother and father.

You may be at risk if you’ve had:

  • recurrent pregnancy losses
  • an infant with a neural tube defect like spina bifida or anencephaly
  • a history of preeclampsia

There are different types of mutations that can happen with this gene. Some of them can affect pregnancy more than others. Mutations can also affect other bodily systems like the heart. There’s no scientific evidence that MTHFR gene mutations cause recurrent pregnancy loss, but women who’ve had multiple pregnancy losses often test positive for the MTHFR gene mutation.

Pregnant women who have a positive MTHFR mutated gene may go on to have complications during pregnancy. These can include:

  • Spina bifida. This is a birth defect where the spinal cord sticks out of the baby’s back, creating nerve damage. Depending on the severity of the spina bifida, some children go on to have normal lives, while others need full-time care.
  • Anencephaly. This is a serious birth defect where a baby is born without parts of their brain or skull. Most babies don’t live past one week of life.
  • Preeclampsia. This is a condition involving high blood pressure during pregnancy.

It’s not standard protocol to test every pregnant woman for the existence of a mutated MTHFR gene. It can be very costly to do so, and insurance doesn’t always cover it. But your doctor may order this test if you’ve:

  • had multiple miscarriages
  • have a family history of mutated MTHFR gene
  • had genetic issues with another pregnancy

Results are usually available in one to two weeks.

To check for a MTHFR gene mutation, variants of the MTHFR gene are tested. The two most common gene variants tested are called C677T and A1298C. If a person has two of the C677T gene variants, or a C6771 gene variant and one A1298C gene variant, the test often shows elevated homocysteine levels.

But two A1298C gene variants usually aren’t associated with elevated homocysteine levels. It’s possible to have a negative MTHFR gene test and have high homocysteine levels.

Treatment for the positive MTHFR gene mutation is still being studied. However, many doctors will prescribe treatment to help prevent blood clotting or increase folic acid levels.

Your doctor might recommend the following options:

  • Lovenoxor heparin injections. These injections can help prevent blood clots from forming between the developing placenta and the uterine wall. Women prescribed this treatment often start early during pregnancy. But more research is needed to determine how long women need to continue injections.
  • Daily aspirin (81 milligrams). This also helps with blood clot formation, but there’s no scientific evidence that it’s an effective treatment.
  • Prenatal vitamin with L-methylfolate. Your doctor might prescribe this instead of folic acid. Some studies have shown that L-methylfolate can decrease the risk of anemia in pregnant women.

Screening for MTHFR mutation isn’t recommended for every pregnant woman. Many women go on to have normal pregnancies, even if they test positive for the gene mutation. But you may need to be tested if you have a baby born with neural tube defects, or have had multiple miscarriages. Talk to your doctor about your concerns.

Last medically reviewed on February 16, 2018

Determining whether you have an MTHFR mutation is the best way for you to get proof that supports your hypothesis of being an overmethylator or undermethylator. Using a treatment protocol for overmethylation or undermethylation when you have no actual methylation dysfunction may be more problematic than beneficial.

A heterozygous MTHFR polymorphism is found in 30% of the population worldwide, and the more severe homozygous form (homozygous means you inherited the inferior gene from both parents, not just one) is found in 10%. This particular polymorphism is so far the one most intensively studied in the scientific community, as it directly causes a build up of homocysteine which has been proven to be the cause of hardened arteries and heart disease.

MTR polymorphisms are much rarer. A homozygous MTR A2756G polymorphism affects fewer than 1% of the population, for example.

There are scattered articles providing information on the prevalence of the other polymorphisms, but often they study a specific ethnic group, or a study population too small to extrapolate the data to the population at large. It does seem, however, that some of these polymorphisms are far from rare.

A positive result means something different for each individual. It is very important to remember that just because you have a mutation does not mean you will necessarily have health issues, the gene may not be expressed. There are many factors that influence genes ranging from stress, to your diet and the environment around you. Ensure you get your gene test interpreted by a professional.

Amy Jaramillo talks about the Genetic Test Kit

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Differences Between the tests

Test Kit

Tests for MTHFR A1298C and MTHFR C677T. This test explains which specific MTHFR mutation you have, and whether you are heterozygous (1 mutation), homozygous (2 mutations), or compound heterozygous (1 copy of A1298C and 1 copy of C677T).

MTHFR + COMT

Tests for both MTHFR A1298C and MTHFR C677T, as well as COMT VAL158MET
If you have both COMT and MTHFR mutations, you are at an increased risk for feeling stressed and anxious. MTHFR mutations create a methylation deficiency. Methylation is essential for many body processes such as healthy neurotransmitter production and breakdown. Methyl groups help the body produce adequate amounts of serotonin, dopamine, and adrenaline. With COMT mutations, you experience slower breakdown speeds of neurotransmitters, and with MTHFR mutations your body is producing fewer neurotransmitters or is unable to properly breakdown neurotransmitters. Having a combination of both of these mutations results in a predisposition to anxiety.

COMT

Tests for COMT VAL158MET.
Finding out whether or not a COMT mutation is affecting your neurotransmitter breakdown, can allow you to choose supplementation that will help improve your symptoms. For example, for individuals with COMT mutations, TMG (Betaine) is often the most effective choice in methyl donor. Methylated B vitamins are often over stimulatory when COMT mutations are involved. As well, they are promoters/co-factors for many other pathways which means they can cause a lot of undesirable reactions. Therefore, testing for this mutation can help you understand why your body reacts to certain vitamins in negative ways, and you can choose supplementation and nutrition that is right for your genes

Both MTHFR and COMT genes are involved in the methylation pathway and testing their function is important to better understand your body’s functions such as:

  • Brain chemistry important for mood, anxiety, and stress
  • Immune function
  • Controlling inflammation
  • Energy production
  • Detoxification of chemicals and toxins
  • Cardiovascular health

The COMT (catechol-O-methyltransferase)gene codes for the essential COMT enzyme that is involved in the inactivation of catecholamines such as dopamine, epinephrine, norepinephrine, and catechol estrogens. 1-3 Scientific research has demonstrated that a common mutation in the COMT locus results in the replacement of the amino acid valine with methionine at position 158 in the enzyme. This causes a dramatic reduction in the enzyme’s ability to metabolize these neurotransmitters and catechol estrogens

Buccal Swab
Our test kit is minimally invasive, NO blood draw needed. Easy to use, a convenient test that can be performed in the privacy of your home. Designed for all ages including infants. Tests for MTHFR A1298C and MTHFR C677T.

Test Kit includes:

  • A Simple Requisition Form
  • Two (2) Sterile Buccal Swabs
  • Instructions
  • Mailing Envelope

NOTE: This test is ONLY AVAILABLE TO AUSTRALIAN RESIDENTS.

Do your children have a MTHFR Gene Mutation?

This MTHFR test is great for testing your child for MTHFR gene mutations, the test is great for all ages including babies. The test uses a simple saliva sample so there is no needles, no pain, no blood & no tears!

MTHFR gene mutations are linked to many childhood health problems, this can put your child at serious risk of growth and developmental problems, this can cause them serious illness and disease later in life. Finding out if your child has the gene mutations early in life can make a very big difference to their entire life both physically and mentally. A simple home saliva test is all you need to give your child a big advantage in life if they have one or more of the gene mutation. Over 50% of the population have the mutations so it is vital that you as a parent knows if your child is one of them.

About The MTHFR Gene Mutation Saliva Test for kids

After you purchase the MTHFR Gene Mutation Saliva Test, you will receive a simple saliva test kit in the mail. The test kit comes with:

  • A buccal swab home saliva test kit
  • Full instructions and laboratory request form
  • Complete instructions & tools for taking the test
  • Pre paid express post envelope to return the test to the laboratory (Australia Only).

Test results are sent to one of our professional health practitioners within 7-10 business days for evaluation. Our practitioners contact you with the results and recommendations on any findings via email, mail or phone.

Why This MTHFR Test Over Others?

  • Convenient – Can be done from home or office and only takes a few minutes
  • Easiest test for kids– no blood, no needles, no pain
  • Accurate – Australian laboratory tested & verified
  • Tests for both MTHFR gene variants (many only test for one)
  • Professional advice included – Results are checked by qualified MTHFR practitioners

How The MTHFR Saliva Test Works

The mthfr saliva test kit comes with all instructions & items required for the test, you will get a MTHFR buccal swab home saliva test kit, the test requires that you swab your mouth to collect some saliva for testing. Once you complete the test you send it back to our laboratory as per the instructions that you receive with the kit.

Once the results are tested in the laboratory they are sent to our MTHFR professional practitioners for evaluation, they then contact you with the results and provide recommendations if any are required. The test is easy to use, there no pain and your saliva sample is professionally tested in a qualified laboratory, then followed up by professional qualified advice.

What Exactly Is Tested?

This test is looking for the MTHFR (Methylenetetrahydrofolate reductase) gene mutations. The genes tested for include both the important MTHFR genes such as:

  • MTHFR Gene Mutation (C677T)
  • MTHFR Gene Mutation (A1298C)

The MTHFR (methylenetetrahydrofolate reductase) blood test is ordered to detect mutations that commonly occur on this gene. If the mutation is present, then the individual will likely have an elevated level of homocysteine in their blood. It will usually be ordered if previous blood tests have indicated that there are above normal levels of homocysteine in the blood.

Individuals who have a family history of early onset cardiovascular disease may also be recommended for this test, as will individuals who have a history of inappropriate blood clots. A known family history of MTHFR mutations will also typically result in this test being ordered to ensure that it hasn’t been passed along from parent to child.

Up to 14% of the US population has two copies of the C677T MTHFR variant, but those with a family history of Mediterranean origin tend to be at the highest risk. This variant reduces the body’s ability to process folate and homocysteine, leading to a build-up in the blood.

There are typically no symptoms that develop which indicate that there is a MTHFR genetic mutation present. Most people tend to have this test after experiencing some of the signs or symptoms of cardiovascular disease.

What Do My Test Results Mean?

The MTHFR blood test results are typically reported as being either positive or negative. A negative test result generally means that there isn’t a gene mutation present, but won’t offer a solution for higher than normal homocysteine levels. High homocysteine levels can be caused by a B vitamin deficiency, metabolism disorder, or a rare mutation that the MTHFR blood test cannot detect.

A positive test, on the other hand, generally indicates that there is a mutation present. It is a good indication that the mutation is being behind the cause of high homocysteine levels. As a result, this gives the individual a higher risk than the general population of developing cardiovascular disease or thrombosis at some point during their lives.

No two people are alike should a positive MTHFR blood test confirm the reasons behind homocysteine elevations. Enzyme activity, folate levels, and an individual’s overall health status all contribute to the risks of cardiovascular disease development. The keyword here is “risk.” Just because the genetic mutation is present does not guarantee that cardiovascular disease or thrombosis will develop. It just means the chances are better than average that it will.

Here’s What You Need to Know

Only a small number of elevated homocysteine levels is due to genetic inheritance. The MTHFR blood test will detect the common types of this inheritance. It is believed that the homocysteine levels can damage blood vessel walls or promote the accumulate of plaque, which is known as atherosclerosis, but how this occurs is not completely known.

Even though there is a suspected link between MTHFR mutations, increased homcysteine, and cardiovascular disease risk, but many people who test positive on this blood test will never develop heart disease or even thrombosis. The risk assessment levels are still being created from test results and long-term studies involving individuals who have a confirmed mutation, so an accurate depiction of risk is not generally known as of yet.

Certain types of genetic mutations will cause enzyme substitutions as a variant. This makes the actual MTHFR enzyme less active and results may vary based on the level of variance that has occurred with an individualized mutation. For specific results in this area, a genetic specialist may be required to be on a person’s treatment team.

There have been some clinical studies that have pointed to an increased risk of neural tube birth defects, certain types of cancer, and pre-eclampsia from the genetic mutations on the MTHFR gene. This particular blood test cannot be used as a screening tool to be able to detect these conditions. Because pre-eclampsia is a toxemia of a pregnancy and creates high blood pressure, fluid retention, and protein in the urine that can damage the kidneys, the condition must be treated to prevent convulsions that may affect mother and child.

An adequate amount of folate intake can help to cancel out the higher than normal levels of homocysteine that can lead to higher risks of premature cardiovascular disease. If the test results from the MTHFR blood test are positive, then speak with your medical provider about what the benefits of an increased folate intake may be for you. Most people who test positive will not develop cardiovascular disease, but it is still important to take this information and apply to lifestyle choices.

As much as half of the population may have an MTHFR gene test mutation which has been linked to anxiety, insomnia, fatigue and depression.

What is an MTHFR mutation?

The MTHFR gene provides instructions to produce the MTHFR enzyme. This enzyme is needed to activate folate in the body which is essential for:

  1. Cell division, heart function, DNA synthesis, brain function and memory.
  2. Converting homocysteine into methionine which the body needs for proper metabolism and muscle growth.
  3. The process of methylation which enables the body to detoxify itself.

An MTHFR gene test will identify a defect in the MTHFR gene which can cause abnormally high levels of homocysteine. Elevated homocysteine is associated with cardiovascular disease, high blood pressure, glaucoma, ischaemic stroke and atherosclerosis. Research also links migraines and depression to inadequate methylation caused by variances in the MTHFR gene.

We can also offer a finger prick blood spot or cheek swab home collection kit for this test for $95 – contact us for more information.

What we test

MTHFR Mutations

Two relatively common DNA sequence variants known as single nucleotide polymorphisms (SNPs) are tested. These two MTHFR variants are called C677T and A1298C and individuals can inherit one or both variants.

If someone has two copies of the MTHFR C677T, or one copy of C677T and one of A1298C, a decrease in the activity of MTHFR enzyme slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.

If someone has two copies of the MTHFR C677T, or one copy of C677T and one of A1298C, a decrease in the activity of MTHFR enzyme slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.

How to Test for MTHFR

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MTHFR (Methylenetetrahydrofolate Reductase) is very critical in the function of methylation, a complex biochemical process that regulates gene expression (turns genes on & off) and governs intracellular detoxification. MTHFR is needed for the metabolism of folate (folic acid) and is a cofactor needed to convert homocysteine (a potentially toxic amino acid) to methionine. MTHFR has been linked by many researches to conditions such as Blood Clots, Heart Disease, Fibromyalgia, Migraine Headaches, Infertility, Autism, Birth Defects, Miscarriages, IBS, Mental Illness and many more. MTHFR mutations occurs in over 80% of the population.

Our MTHFR testing checks for mutations in the two most important alleles.

MTHFR Testing – C677T can also lead to high homocysteine. Although it does not necessarily mean there will be high homocysteine levels in a clinical setting as there are other factors that can influence homocysteine levels. This allele has shown in research to have a greater impact in someone’s health.

MTHFR Testing – A1298C has not been found clinically to have an effect in homocysteine levels. This allele has a greater effect in the production of BH4 (tetrahydrobiopterin). BH4 is a cofactor in the production of neurotransmitters such as epinephrine, serotonin, L-Dopa, melatonin, etc. A deficiency of BH4 may affect the cardiovascular and neurological systems as well as emotional wellbeing.

Compound heterozygous is considered severe or “at risk”. High homocysteine has a high risk factor for numerous diseases. The MTHFR mutations with homozygous or compound heterozygous are more likely to have elevated homocysteine and greater risk of heart disease.

Two versions of this enzyme are made from the gene. The longer form, called membrane-bound catechol-O-methyltransferase (MB-COMT), is chiefly produced by nerve cells in the brain. Other tissues, including the liver, kidneys, and blood, produce a shorter form of the enzyme called soluble catechol-O-methyltransferase (S-COMT). This form of the enzyme helps control the levels of certain hormones. COMT helps get rid of excess neurotransmitters and estrogens. A homozygous mutation of the V158M allele is associated with a 40% reduction in COMT activity. Patients receiving estrogen therapy should pay attention to this gene especially if they have a family history of estrogen related cancers.

A homozygous mutation may also affect the way patients process 5-L-Methylfolate, therefore it is always a good idea to have this gene checked in addition to MTHFR.

BEHAVIORAL HEALTH INFORMATION

The COMT (Catechol-O-Methyltransferase) gene codes for the essential COMT enzyme that is involved in the inactivation of catecholamines and catecholestrogens. Scientific research has demonstrated that a common mutation in the COMT locus results in the conversion of the amino acid valine to methionine at position 158, and causes a dramatic reduction in the enzyme’s ability to metabolize these neurotransmitters and catecholestrogens. The enzyme is notably active in the prefrontal cortex, or PFC; the area of the brain that gives rise to what we perceive as our personality, emotions, behavior inhibition, abstract thinking, and short-term memory. Val (G) allele carriers have higher enzyme activity resulting in greater stress resiliency and lower neurotransmitter levels, while Met (A) allele carriers have lower enzyme activity resulting in reduced stress resiliency and higher neurotransmitter levels, and heterozygous Val/Met allele carriers exhibit an intermediate enzyme activity.

Polymorphisms in the COMT gene have been implicated in association with various mental health disorders through the resulting changes in neurotransmitter levels. Disorders that may be associated with this gene variant in some populations include drug abuse, alcohol abuse, severity of schizophrenic symptoms, obsessive compulsive disorder in men, panic disorder, post-traumatic stress disorder, and bipolar affective disorder.

PAIN MANAGEMENT INFORMATION AND NEUROLOGICAL INFORMATION

COMT polymorphisms have also been linked to pain sensitivity. It has been suggested that a reduction in neurotransmitter inactivation, such as is seen with the Met/Met genotype, results in higher levels of neurotransmitter, leading to chronic stimulation of the neurotransmitter receptors. This overstimulation may result in less endogenous opioids being produced that help to provide pain relief and euphoria. Therefore, Met/Met allele carriers perceive a higher level of pain, while Val/Val carriers have the greatest resistance to pain. Interestingly though, studies have shown that Met/Met allele carriers require less pain killers to achieve pain relief, possibly due to the increase in µ-opioid receptors seen with this genotype, while Val/Val allele carriers require the most medication for pain management. COMT also has been shown to have an effect on neurotransmitter therapy in Parkinson’s disease treatment. Commonly COMT inhibitors are utilized in Parkinson’s treatment to augment and prolong neurotransmitter treatment. COMT polymorphisms affect the bioavailability of these medications, yielding an enhanced effect in the Val/Val allele carriers as compared to Met/Met allele carriers.

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To test or not to test for MTHFR? That is an important question that many are asking these days! And I think there are 3 good options available to you if you want to get tested and find out what your specific MTHFR mutation status actually is. We’ll discuss each below, including pros and cons.

Two of these options are much more useful than the cheapest approach. Of course, some doctors simply say that because so much of the population is prone to having an MTHFR defect, it’s not so important that you know exactly what your status is and therefore no test is really needed. You might have just as much success experimenting with some of the supplements that help work around the MTHFR mutation(s) without needing to know your specific mutation details.

While not needing a test may be true for MTHFR, Methyl-Life’s founder, Jamie Horn, thinks it’s incredibly valuable to know what’s in your body and what genetics you have. As this industry grows, so should the knowledge about how to manage some of these specific defects in future. If you don’t know what your mutations are, you can’t properly address them in a proactive way. We would highly recommend that folks get their genetics results, even if they don’t do anything important or immediate with that information. Just having one’s own personal genetic results should be a basic right. We would hate to see any agency, government, pharmaceutical company or otherwise prevent you from getting that information in future (we have already seen the FDA drastically reduce what some grassroots organizations can report for you). At Methyl-Life, we make specific nutritional decisions based on what we have learned about our personal genetics and this has significantly helped with our quality of life thus far. So we highly recommend getting a full test results panel.

  • 160413.3, last updated: 2016-05-09
  • 160413.2, last updated: 2014-05-02
  • 160413.1, last updated: 2014-05-02

Clinical testHelp In the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for MTHFR deficiency, thermolabile type
Offered by Molecular Diagnostics Laboratory

Indication

This is a clinical test intended for Help Purposes or indications for the test. Lab-provided. : Diagnosis, Risk Assessment

Clinical summary

Imported from Medical Genetics Summaries

Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine. Genetic variations in the MTHFR gene can lead to impaired function or inactivation of this enzyme, which results in mildly elevated levels of homocysteine, especially in individuals who are also deficient in folate. In these individuals, a daily supplement of low dose folic acid may reduce and often normalize their homocysteine levels, but this has not been demonstrated to improve health outcomes. A common genetic variant in the MTHFR gene is a 677C>T polymorphism (NM_005957.4:c.665C>T, rs1801133). This variant encodes a thermolabile enzyme that is less active at higher temperatures. Individuals who carry two copies of this variant (“TT homozygous”) tend to have higher homocysteine levels and lower serum folate levels compared to controls. More than 25% of Hispanics and around 10-15% of North America Caucasians are estimated to be homozygous for the “thermolabile” variant (TT genotype). The TT genotype is least common in individuals of African descent (6%). Another common MTHFR variant, 1298A>C (NM_005957.4:c.1286A>C, rs1801131), does not cause increased homocysteine levels in heterozygous or homozygous individuals, but combined heterozygosity of 1298A>C and 677C>T results in an outcome similar to TT homozygous individuals. Until recently, it was thought that MTHFR deficiency, by causing elevated homocysteine levels, led to an increased risk of venous thrombosis, coronary heart disease, and recurrent pregnancy loss. However, more recent analysis has not found an association between elevated homocysteine levels and the risk of venous thrombosis or the risk of coronary heart disease. MTHFR polymorphism genotyping should not be ordered as part of the clinical evaluation for thrombophilia, recurrent pregnancy loss, or for at-risk family members. Rarely, more severe variants in the MTHFR gene can be a cause of an autosomal recessive inborn error or metabolism where extremely high levels of homocysteine accumulate in the urine and plasma. This can cause developmental delay, eye disorders, thrombosis, and osteoporosis. But more commonly, homocystinuria is caused by variants in a different gene (cystathionine beta-synthase, CBS).

MTHFR Test Near You

Using Push Health, you can easily request a MTHFR test from a licensed medical provider, get tested at a lab near you, and get results electronically. The total fees are $143.29 and include the lab order, lab fees and an electronic copy of the results. This MTHFR test is a blood test.

How It Works

Place your request online and pay the all-inclusive fees for the MTHFR test.

A licensed medical provider in your state will review your request and authorize a lab order.

Visit an approved Quest Diagnostics lab near you and get tested.

Receive your results through your Push Health account.

What is a MTHFR test?

MTHFR, or methylenetetrahydrofolate reductase, is an enzyme that helps metabolize homocysteine in the body. Abnormalities in the MTHFR gene can lead to elevated homocysteine levels which is correlated to elevated cardiovascular risk.

This test checks for mutations in the C677T and A1298C positions.

What’s included in the total fees?

The fees include everything that you need to get tested:

  • A lab order from a medical provider
  • All lab fees
  • An electronic copy of your results

Do I need a separate lab order to get tested?

No. A lab order is authorized by a licensed medical provider in your state and is included in the total.

What happens after I place my order?

Your order will be reviewed and approved by a licensed medical provider in your state. Once approved (typically in a few hours or less), you will receive an email notification and information on how to access a PDF of your lab order to take to the lab. If, for some reason at the sole discretion of the licensed medical providers, your request cannot be approved, you will receive a full refund.

Where do I get tested?

We work with Quest Diagnostics and you will be able to get tested at a location found on the lab finder when making your request. You will need to bring your lab order to the lab on the day of testing.

How long will it take to get my results?

It typically takes 4 business days or less.

Can I use my health insurance?

No. Health insurance cannot be used to pay for the services provided. We accept all major credit/debit cards, Health Savings Account (HSA) and Flexible Spending Account (FSA) cards, and PayPal.

MTHFR, or methylenetetrahydrofolate reductase, is an enzyme that is involved with a chemical reaction in the body that leads to the production of 5-methyltetrahydrofolate. 5-methyltetrahydrofolate, also known as levomefolic acid, is important to help clear the body of an amino acid known as homocysteine. At high levels, homocysteine can be poisonous to the body and, without the help of the MTHFR enzyme’s activity, homocysteine will accumulate.

The MTHFR gene is found on chromosome 1 in humans. Two of the most important SNPs (single nucleotide polymorphisms) in MTHFR are C677T and A1298C. Said another way, the 677 position in MTHFR can have a cytosine (C) or a thymine (T) variant while the 1298 position can have an adenine (A) or a cytosine (C) variant. Approximately 10% of the North American population has the 677TT genotype which is associated with lower MTHFR enzyme activity due to heightened enzyme heat sensitivity. Additionally, people with the 677TT MTHFR genotype are more sensitive to folic acid intake and can have high plasma homocysteine levels in the setting of low dietary folate.

This MTHFR blood test checks for genetic mutations in the C677T and A1298C positions of the methylenetetrahydrofolate reductase gene. To get an MTHFR test at a Quest Diagnostics lab near you, click the button above, complete the medical information questionnaire, select a lab and pay for your blood test. Once your MTHFR lab request is submitted, Push Health will immediately contact licensed medical providers in your state of residence to see if one is willing to approve the test. In almost every case, a licensed provider will approve the MTHFR genetic test for you and it generally happens within one hour or less. Assuming your MTHFR test is approved, you will need to take the lab order to your selected Quest Diagnostics lab and get your blood drawn. Once your MTHFR lab report is available, the ordering provider will review it and release it to you where the MTHFR results will be accessible in your Push Health account.

The MTHFR test is a genetic test and, like the celiac genetic test and the Factor V Leiden test, is not the type of traditional lab test that many medical providers order on a regular basis. Push Health is pleased to connect people with medical providers in their area to get MTHF gene mutation testing.

Last updated May 16, 2020. Given the evolving nature of medicine and science, this information might not be accurate and should not be construed as medical advice or diagnosis / treatment recommendations. Please consult a licensed medical provider if you have additional questions.

Watch, Listen or Read Dr. John Salerno’s Interview on MTHFR!

How to Test for MTHFR

Below you will find an easy-to-read transcript of Dr. John Salerno’s monthly interview. You can click here to watch the interview on YouTube, click here to listen to the podcast on iTunes, or simply read the easy-to-follow transcript below. Enjoy!

RC: Hello everyone, this is Liz Harvey coming to you from our studios in New York City where we are dedicated to bringing you top quality advice from many of the leading expert professionals across the U.S. In today’s episode, we are speaking with Dr. John Salerno, founder of the Salerno Center for Complementary Medicine in Manhattan on East 55nd Street between 5th and Madison Avenue. Lauded as an international pioneer in the field of anti-aging, Dr. Salerno’s techniques have been proven to slow the aging process and encourage a healthy and vitality-filled life for his patients through natural treatments.

Dr. Salerno is well known for his vitamin IVs, weight-loss treatments, and chelation therapy. He is the author of two books, Fight Fat with Fat and Salerno Solutions, which are both available on his website, www.SalernoCenter.com. Today we are going to talk about a very important topic:

What is MTHFR? How do we test for it? What should you do if you test positive?

RC: Hello Dr. Salerno, how are you today?

Dr. John Salerno: Good, how are you?

RC: I’m doing great, thanks so much for joining me.

Dr. John Salerno: Great thank you for having me.

RC: Well, thanks again. What is MTHFR?

Dr. John Salerno: MTHFR is a genetic test that we do here as a standard part of our blood lab testing. And it measures something called methylation. And it is found in patients that are particularly of Northern European descent, although we’re finding it pretty much universally across most Americans today. And it measures whether they are methylating correctly which translates to something called homocysteine, which is a protein in the blood that can cause plaque and blood clotting and even cancers and heart disease. So it is a sophisticated test. But for our purposes, for what we measure, it can determine whether a patient can detox well or not.

RC: What are some symptoms of MTHFR?

Dr. John Salerno: So MTHFR can run the gamut from both depression, fatigue, anxiety. We will see patients that will have symptoms related to heavy metals, such as severe anxiety from mercury because they can’t detox well. And that’s an indirect result of having an MTHFR genetic defect.

RC: Are certain people at risk for MTHFR?

Dr. John Salerno: Yes. As I said before, we find it very often in Northern European descent, although, with the mixture of the genetic pool in the United States today, we are seeing probably 70 to 80% of our patients have at least one flaw in their genetics that affects MTHFR.
How do you test for it?

Dr. John Salerno: Very simple. It is a simple blood test, as I said, and we do it routinely here in my office.

RC: What should someone do if they test positive?

Dr. John Salerno: If they test positive, again, it depends on what genes are involved, but mostly it is corrected by taking a methylated or natural form of B vitamin, particularly folic acid, B12, B6. And that is what we here at the Salerno Center give our patients. We call it MTHFR Factor, or MTHFR Factor 2.

RC: Thank you, Dr. Salerno. We know you’re extremely busy so I just want to thank you for your time and your help today.

Dr. John Salerno: Oh, you’re very welcome. Thank you.

Learn more about the MTHFR Test from experts.

What does “MTHFR” in MTHFR test stand for?

MTHFR stands for methylenetetrahydrofolate reductase.

Why is MTHFR important?

MTHFR is an enzyme that helps metabolize homocysteine in the body. People who have a mutated MTHFR gene often have difficulty metabolizing homocysteine in the blood.

What is the MTHFR test?

The MTHFR test is a test to determine if one has clinically significant mutations in the MTHFR gene. In particular, mutations in the C677T and A1298C gene positions are the most common.

Where can I get an MTHFR test?

If you need an MTHFR Test in the US and don’t have anywhere to go, we would recommend searching online for MTHFR test.

Who are people who might benefit from the MTHFR test?

People who should consider getting an MTHFR test include anyone with a high homocysteine level, a history of cardiovascualar disease (particularly at a younger age), a family history of a genetic mutation or a condition called Factor V Leiden.

Who else should consider getting an MTHFR test?

Women who are having trouble getting pregnant should also consider getting an MTHFR test.

How does the MTHFR test work?

The MTHFR test requires a blood draw. Your blood will be tested for MTHFR genetic mutations at the points of interest.

How long does it take to get MTHFR test results?

Depending on the lab, it can take anywhere from 4 to 10 business days.

Is fasting required before an MTHFR test?

No. Fasting is not required for the MTHFR test.

How much does an MTHFR test cost?

An MTHFR test can cause thousands of dollars, particularly if your health insurance only partially covers the test.

Do I need to see a doctor or medical provider before getting an MTHFR test?

An MTHFR test requires a valid lab order from a doctor or a medical provider before testing.

Will my insurance cover an MTHFR test?

It depends on your insurance but, along with the MTHFR test cost, there are typically associated costs like co-pays.

Can you recommend any references that discuss MTHFR in more detail?

Here is a good reference to look at.

This information is subject to change. We provide this information as a service and do not warrant the accuracy of any of this information.

What is MTHFR and why is it important?

MTHFR is an enzyme required to convert folic acid into an active form called L-methylfolate that is usable by our bodies. L-methylfolate plays an important role in making neurotransmitters such as serotonin, dopamine, and norepinephrine, which help regulate mood.

Some people carry a mutation in the MTHFR gene, which limits their ability to create L-methylfolate. The GeneSight MTHFR test shows whether or not a person has this mutation.

How do doctors treat people with reduced MTHFR activity?

There are two possible treatment options for people with reduced MTHFR activity; both are oral supplements:

  • L-methylfolate: Studies have shown that using L-methylfolate alone 1–4 or in addition to an antidepressant 4–6 can help reduce depressive symptoms. One study has shown that depressed patients with variation in MTHFR may benefit more from taking L-methylfolate. 7
  • Folic acid: While this is a possible treatment option, healthcare providers and researchers are split on whether it is an effective one. Studies evaluating the effect of folic acid alone on depression response have produced mixed results. 8–10 Some studies show that folic acid in addition to an antidepressant helps improve depression 11–13 , while other studies show no benefit 14–16 .

How can consumers take L-methylfolate or folic acid?

L-methylfolate is available over the counter or as a prescription. Folic acid is generally available in 400 mcg in a multivitamin or 800 mcg in a prenatal vitamin. Note: Assurex Health does not make dosing recommendations; please check with your healthcare provider on whether this is right for you.

Are there any risks to taking folic acid supplements?

There may be some potential risks with high doses of folic acid. Although studies have produced mixed results 17–23 , high doses of folic acid may mask symptoms of vitamin B12 deficiency (i.e., anemia). Some studies have also shown that high intake of folic acid may intensify the neurologic effects of vitamin B12 deficiency (i.e., cognitive impairment). 17,24,25

While more research needs to be conducted, folic acid and L-methylfolate dietary supplements may help with depressive symptoms. Please talk to your healthcare provider to find out if this is right for you.

Questions?

For more information on how the GeneSight test can help you and your physician, visit genesight.com, email us at [email protected], or phone 855.891.9415.

This document is for educational purposes related to pharmacogenomics and personalized medicine only and should not be considered medical advice. The information is based on scientific opinion from industry experts and is intended to provide additional information to healthcare providers. These materials may be changed, improved, or updated without notice. Assurex Health is not responsible for any errors or omissions contained in third party content. We encourage you to contact us for specific scientific advice regarding our GeneSight® tests. You may print a copy of this document for your own personal noncommercial use. You may not copy any part of this document for any other purpose, and you may not modify any part of this document without the permission of Assurex Health. “GeneSight,” “Assurex” and associated logos are registered trademarks of Assurex Health, Inc. © 2018 Assurex Health, Inc. All rights reserved.

Genetic tests for common mutations that affect metabolism

How to Test for MTHFR

How to Test for MTHFR

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How to Test for MTHFR

How to Test for MTHFR

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Genetic tests for common mutations that affect metabolism

Both MTHFR and COMT genes are involved in the methylation pathway and testing their function is an important component of your anti-aging strategy. Think of billions of on/off switches that control most of your body’s functions such as:

  • Brain chemistry important for mood, anxiety and stress
  • Immune function
  • Controlling inflammation
  • Energy production
  • Detoxification of chemicals and toxins
  • Cardiovascular health

When methylation is working, it helps you feel full of energy, in a good mood, and just generally well! When it is not working, you can feel tired, depressed, irritable, run-down, susceptible to infections, foggy-brained, and just plain “toxic.” This genetic methylation profile looks for gene mutations (also called SNP’s) of the following two enzymes:

  • MTHFR – (5,10-methylenetetrahydrofolate reductase)
    • Research has shown that some people may be at risk of methylation insufficiency due to reduced MTHFR enzyme function. 1
    • Two common mutations in the MTHFR gene (C677T and A1298C) may contribute to increased levels of homocysteine, a known risk factor for heart disease, atherosclerosis 2 and venous thrombosis. 3
    • Those with a genetic mutation in MTHFR will have varying levels of difficulty creating the active form of folic acid which is the important form the body needs to function properly.
    • Maintaining levels of activated folate may also aid in preventing depression. 4-6
    • Those with a genetic mutation in MTHFR should consider taking activated folate vs. regular folic acid.
    • The best genotype to have in the C677T position is CC since it contains no mutations. The worst genotype to have in this position is TT since it contains two copies of the mutation.
    • The best genotype to have in the A1298C position is AA since it contains no mutations. The worst genotype to have is CC since it contains two copies of the mutation.
  • COMT – (Catechol-O-methyltransferase)
    • A common mutation in COMT, the conversion of the amino acid valine to methionine at positon 158 causes a dramatic reduction in its ability to break down neurotransmitters. 7-9
    • Since COMT is central to dopamine metabolism, mutations are associated with lowered stress resiliency, increased sensitivity to pain 10,11 and the propensity to worry.
    • COMT also plays a role in estrogen metabolism and may lower the cancer-causing potential of metabolites .12
    • The wildtype genotype is GG (Val/Val) since it contains no mutations. The homozygous mutated genotype is AA (Met/Met) since it contains two copies of the mutation.

Genetic testing allows you to see inside your own DNA in order to draw a personalized map regarding imbalances that might impact your health. Genetic mutations are simply pieces of a much larger puzzle that allow you to see “potential” risks and take action in a preventative fashion. Although genetic mutations do not change over time, understanding them allows you to choose diet, supplementation and lifestyle changes to support good health.

Instructions

The following documents provide a full set of instructions for completing the test:

Note

Results take 2-3 weeks from when specimen is received. This test is not available in Pennsylvania. The results for this test can only be received via mail, e-mail, or fax. Since genetic mutations do not change over time, each person needs to be tested only once in their lifetime.

References

  1. Weisberg, I et al. A second genetic polymorphism in methylene tetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998; 64:169–72.
  2. Frosst, P et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995; 10:111–3.
  3. Gemmati, D et al. C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients. Haematologica. 1999; 84(9):824–8.
  4. Lok A. et al. The one-carbon-cycle and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in recurrent major depressive disorder; influence of antidepressant use and depressive state? Journal of Affective Disorders. 2014; 166:115 – 123.
  5. Gilbody S et al. Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review. Am J Epidem. 2007; 165:1-13.
  6. Lewis SJ et al. The thermolabile variant of MTHFR is associated with depression in the British Women’s Heart and Health Study and a meta-analysis. Molec Psychiat. 2006; 11:352-360.
  7. Enoch MA et al. Genetic origins of anxiety in women: a role for a functional catechol-O-methyltransferase polymorphism. Psychiatr Genet. 2003; 13:33-41.
  8. Woo JM et al. The association between panic disorder and the L/L genotype of catechol-O-methyltransferase. J Psych Res. 2004; 38:365-370.
  9. Smolka MN et al. Catechol-O-Methyltransferase val158met genotype affects processing of emotional stimuli in the amygdala and prefrontal cortex. J Neuro Sci. 2005; 25:836-842.
  10. Janicki PK. Pharmacogenetics of Pain Management. Comprehensive Treatment of Chronic Pain by Medical, Interventional, and Inegrative Approaches. Edited by TR Deers. American Academy of Pain Medicine. 2013.
  11. Zubieta JK et al. COMT val158met Genotype Affects mu-opiod Neurotransmitter Responses to Pain Stressor, Science. 2003; 299(5610):1240-1243.
  12. Ball P and R Knuppen. Catecholoestrogens (2-and 4-hydroxyoestrogens); chemistry, biogenesis, etabolism, occurrence and physiological significance. Acta Endrocrinol. Suppl. (Copenh). 1980;232:1-127.

The laboratory services are for informational purposes only. It is not the intention of National Diagnostics, Inc and Life Extension to provide specific medical advice but rather to provide users with information to better understand their health. Specific medical advice including diagnosis and treatment will not be provided. Always seek the advice of a trained health professional for medical advice, diagnosis or treatment.

Both the physician and the testing laboratory are independent contractors with whom National Diagnostics, Inc makes arrangements for your blood tests. Neither National Diagnostics, Inc or Life Extension will be liable for any acts or omissions of the physician, the testing laboratory, or their agents or employees.

Table of Contents

Introduction

You may have heard about the buzz about the gene 5,10-methylenetetrahydrofolate reductase, or MTHFR for short. Thousands of studies have been published linking genetic variants, or mutations, in this gene, to hundreds of medical conditions. These medical conditions include cardiovascular diseases, blood clotting issues, psychiatric disorders, developmental disorders, pregnancy complications, and cancer. However, the existing scientific data do not support most of the claims made about such associations.

In this blog post, we break down the scientific literature to explain what we do know about MTHFR, why testing for variants in this gene is likely not necessary, and why you should be wary of alternative medicine and supplement companies that are spreading misinformation and profiting from it.

The Science Behind MTHFR

What is MTHFR?

MTHFR is the gene that encodes for the enzyme 5,10-methylenetetrahydrofolate reductase. Enzymes are proteins that speed up chemical reactions in the body. The MTHFR enzyme helps convert a form of folate (5,10-methylenetetrahydrofolate) into a different form of folate (5-methyltetrahydrofolate), the latter of which is the primary biologically active form of folate. It plays a role in synthesis building blocks of proteins, otherwise known as amino acids. Specifically, this form of folate helps convert homocysteine to methionine. It has also roles in DNA damage response and the function of the nervous system.

Common Variants in MTHFR

There are a few common MTHFR gene variants that can decrease the activity of the enzyme. In fact, 40% of individuals in the general population have one of these two common variants, C677T and A1298C. The C677T variant specifically results in a 30-70% reduction in enzyme activity, likely due to the fact that the alanine to valine amino acid change makes the overall enzyme more heat-sensitive. In contrast, A1298C results in a smaller reduction in enzyme activity through an unknown mechanism.

SNP ID Major Allele Minor Allele Minor Allele Population Frequency* Amino Acid Change
rs1801133(C677T) C T 34% C (Alanine) > T (Valine)
rs1801131(A1298C) A C 31% A (Glutamine) > C (Alanine)

It is important to note that not all common genetic variants are disease-causing, especially if they are incredibly common in the human population. While individual C677T and A1298C variants do decrease enzyme activity, they generally do not cause health issues. Most individuals have no health issues (i.e. convert homocysteine to methionine) even if MTHFR is not working optimally. In fact, most individuals that have a single variant appear to have normal, or non-elevated, homocysteine levels.

In some cases, however, MTHFR activity may have decreased to very low levels, more likely in individuals with two copies of the MTHFR gene C677T variant. This can result in high homocysteine levels. Elevated homocysteine in the blood, otherwise known as homocystinuria, if left untreated, can result in abnormal blood clotting, brittle bones, and nearsightedness, and increased risk of having a child with a neural tube defect (spina bifida). Nevertheless, homocystinuria is rare, with 1 in 200,000 to 335,000 affected individuals worldwide. Moreover, homocystinuria can result from genetic mutations in other genes, such as cystathionine-beta-synthase (CBS). Finally, homocystinuria is easily detectable, as the symptoms include seizures and developmental delays. Thus, the condition is primarily diagnosed early in life and sometimes even as a birth defect.

Why it is not recommended to test for MTHFR mutations

There is a lot of interest in the MTHFR gene among people who used direct-to-consumer genetic testing services. Does this mean you should get tested for variants in this gene?

As mentioned previously, despite thousands of research articles that have linked MTHFR variants to hundreds of health conditions, most of the evidence is conflicting or inconclusive. For example, some early studies suggest that individuals with C677T and A1298C variants are more likely to develop heart disease. However, more recent studies and meta-analyses with larger sample sizes suggest the opposite. It is important to be wary. Moreover, the notion that a single, common genetic variant can cause hundreds of unrelated health problems is implausible. Ultimately, more research studies with larger sample sizes will need to be conducted before more conclusive claims can be made about the role, if any, of MTHFR variants in disease.

Currently, the American College of Obstetricians and Gynecologists does not recommend testing for MTHFR variants. It is also important to note that, generally there is no need for a genetic test because homocysteine levels can be measured directly with a simple blood test instead. If homocysteine levels are found to be abnormally high, treatment is simple. It’s possible to take a folate supplement, as this allows the body to bypass the need for the enzyme. In any case, you should follow the medical advice of licensed physicians.

Beware of what alternative medicine websites say

There are a number of websites run by naturopaths that make contentious claims about the role of MTHFR variants as risk factors for various diseases. For example, MTHFR.Net run by Dr. Ben Lynch is selling genetic tests and supplements to diagnose variants and treat supposed deficiencies. Another example is My Home MTHFR which sells a genetic testing kit for $150. Other websites sell overpriced supplements, like 5-MTHF, and claim to help treat “infertility, anxiety, depression, inflammation,” and so forth. Beware of misinformation.

Want to learn more about yourself?

Many of the health conditions MTHFR may or may not be associated with are unlikely to be caused by a single gene or genetic variants within that gene. Rather, most of these health conditions are complex, and likely the result of the effects of variants in many genes. For example, a recent genome-wide association study for coronary heart disease highlighted a role for genetic variants near other genes, including QKI.

Whole genome sequencing

At Nebula Genomics, our goal is to empower you to explore your genetic testing data. We offer a number of tools to allow you to answer any question that you might have about your DNA. You can easily examine a gene of interest to learn more, or you can use the genome browser to directly examine your data. You can also examine genetic variants in your MTHFR gene. Order your 30x whole genome sequencing kit today to start exploring your genome!

Did you like this article? If so, you might also like our blog post about APOE! Also, check our our post about how to use ClinVar!

If you are interested in identifying mutations in your genetic data, you might find the following DNA upload sites helpful:

“We all know how imperfect we are.Why not make ourselves a little better suited to survival?”

-James D. Watson, Nobel Laureate,
Co-Discovered DNA’s “Double Helix”

“DNA + Environment + Triggers + Chance = Your Personal Health Destiny. Bypass genetic mutations in MTHFR to increase the manufacture of your ‘Happiness Neurotransmitters.”

Reader, the beginning paragraphs of a blog are almost unanimously designed to hold their audiences’ attention, to keep their eyes glued to the screen and their hands scrolling for more. But right now, I’m going to ask you to do the exact opposite. Take a moment to gaze slowly around the room you occupy. What do you see? I see a desk, a lamp, a corkboard covered with birthday and Father’s Day wishes from my family, and memorabilia from many of our family trips together. And well over 99% of the time I spend in my office, that’s all I see: But the solid nature of the objects at my fingertips belies people, the machines, and the numerous bits and pieces that went into making them what they are now—not to mention the thousands of processes and procedures that brought them into their finished states. The objects in my office—and in yours—have undergone a complex manufacturing process involving natural resources, raw materials, numerous components, and both human and mechanical design and labor, all of which almost certainly spans the entire globe. In our current economy, even something as seemingly simple as a wood desk is subject to such factors as international diplomacy, politics, and—especially of late, the tricky business of trade and tariffs. Thus, despite its seeming simplicity to the naked eye, each object you see right now is the end-product of a vast supply chain, each link in balance with the others. It’s a beautiful thing when it’s working the way it should. But because all the links are dependent on one another, just a single broken link—like import or export taxes—can send the whole process into disarray.

Could a Simple MTHFR Gene Test Provide Solutions to Depression and Anxiety?

A desk is not just a desk, but rather an intricate array of materials and processes that all rely on one another—and, reader, your body is just the same. Just beyond the touch of your skin lies an impossibly complex interplay of elements that are constantly building and destroying and ultimately working to keep you healthy and prevent disease. But just like the challenges found in running any manufacturing plant, there are times when the links in the manufacturing supply chain of your body and brain break down. A malfunctioning “anxiety gene” or “depression gene” can result in mental distress and cognitive impairment, and may only be discovered through a genetic test – through a simple, painless cheek swab. That’s why, this week, I’m going to tell you about a gene that lies at the center of it all, one which, if broken, can wreak havoc on both your mental and physical health. We’re talking about the MTHFR gene: the first of many links in a genetic supply chain that—if broken—can lead to dire mental and physical health consequences. While we can’t repair the gene, we can modify its expression to provide novel solutions to treat anxiety and depression.

I want to stop here and clarify: manufacturing supply chains are certainly designed to follow a predefined path—but aside from that, there are a nearly infinite number of variables that can determine the final outcome. Likewise, those variables can be manipulated in a nearly infinite number of ways. When we simply take the objects that make up our lives at face value, and don’t look beneath the surface, we rob ourselves of the immense gift of not only understanding but appreciating their complexity. Similarly, when we don’t take a look under the proverbial “hood” of our own bodies, we risk losing the opportunity to make informed choices about our very DNA—like deciding to seek out depression solutions, anxiety solutions, or MTHFR gene testing—we rob ourselves of the opportunity to take control of our very destiny and play a role in determining the health outcomes that will shape the rest of our lives and the lives of those around us.

How does a “Broken” MTHFR Gene Help Cause Anxiety and Depression?

So let’s take an up-close look at the “MTHFR supply chain,” and then let’s talk about what you can do to modify that chain to better benefit your health. The MTHFR gene (short for Methylenetetrahydrofolate reductase variant) serves a critical purpose: The production of the MTHFR enzyme. Now, the body has a number of “raw materials” that must be processed into a new form before they can be used by the body. Folate (Vitamin B9), a nutrient, is one of those “raw materials”—and the MTHFR enzyme is the ingenious tool the body’s built to process it. In perfect circumstances, the MTHFR enzyme works its magic to transform folate into an ingredient the body can use; with the enzyme’s help, folate becomes methylfolate. Here’s where the story gets interesting. Methylfolate is a crucial element in our biology responsible for building the ingredients that determine how good we feel. Let me explain: Methylfolate enables our bodies to convert the amino acid homocysteine into another amino acid, methionine. And methionine is used to make brain chemicals essential for a number of aspects of our mental health—these include the neurotransmitters serotonin, dopamine, and norepinephrine. Bottom line, for our purposes: Without methylfolate, these neurotransmitter levels decrease, leading to, among other things, depression and anxiety.

How do Doctors Treat a Mutated MTHFR Gene to Alleviate Anxiety and Depression?

It is estimated that up to 40% of all individuals have a genetic mutation in their MTHFR gene, leading to a low production of the critical enzyme responsible for beginning this whole process. Now, in most people, the implications are negligible. However, those with certain specific mutations can suffer for decades without knowing what’s wrong. People who suffer from MTHFR gene mutations typically do not respond well to standard SSRIs—a common medical treatment for depression and anxiety. If a genetic test is administered and their medical practitioner is able to determine a mutation with their MTHFR gene, they can prescribe L-methylfolate along with an SSRI and enable significantly better outcomes for their patients.

MTHFR is a subtle gene, and one that so many of us know so little about. And yet it holds the keys to better health outcomes for millions of people—and who would want to deprive themselves of the opportunity to feel better at last? In my practice, I am committed to doing Whatever It Takes to help my patients—and I have seen many positive results firsthand from individuals who take control of their genes through that initial cheek swab.

Supply chains run the world, whether we like it or not—in fact, logistics account for nearly 10% of our GDP! The more we understand them—both outside of our bodies and within, the more freedom we have to make choices that lead to greater happiness, longer lives, and a happier, healthier civilization.

17000 Preston Rd, Ste. 400, Dallas, TX 75248

What the MTHFR? Part 3: How to Test for the MTHFR Gene Mutation

How to Test for MTHFR

An estimated 50 percent of the population has some type of MTHFR mutation that can cause health conditions ranging from cardiovascular problems, to neurologic disorders, and systemic conditions such as nausea, hair loss, immune dysfunction, and some cancers. How do you know if you carry on of the more than 40 known variants of the MTHFR gene?

Genetic testing is required to identify or rule out an MTHFR mutation. Genetic testing analyzes at the two copies of DNA strand that encodes the MTHFR genes. Of the two copies of this gene, one is essentially an “extra” copy that serves as a backup should the other copy fail to function properly. While an error on one copy of this DNA results in decreased methyl group production, it is when there are errors or mutations on both copies that impaired health is likely.

There are two categories of MTHFR genetic testing: Genetic SNP testing and Organic Acid Testing.

Genetic SNP Testing SNPs are copying errors in the DNA. To make new cells, an existing cell divides in two, but first it copies its DNA so the new cell will have its own complete set of genetic instructions. Mistakes made during this copying process are called SNP errors (single nucleotide polymorphisms). Genetic SNP testing will look for copying errors on the DNA and dig deeper than laboratory studies that routinely look at only one or two of the positions associated with the MTHFR gene mutations — position 677 (the most common) and position 1298. The C677T mutation is commonly associated with cardiovascular problems and the A1298T mutation is associated with neurologic conditions.

These standard tests fall short in that our genes do not work in isolation and there are many other genes along the methylation genetic pathway that affect genetic expression. To get real valuable actionable testing you should have the other genes in the methylation pathway tested (www.23andme.com is the most affordable and complete testing today on the market).

Organic Acid Test This is a simple urine test that investigates biomarkers from various metabolic pathways that can give a look at several body systems and provide an analysis of any nutritional deficiencies that might exist. Many functional medicine practitioners lean towards organic acid tests because they believe they provide the most useful data for the cost.

The organic acids test is a simple urine test that looks at biomarkers from various metabolic pathways. These biomarkers give an overview of several major systems in the body and an analysis of nutritional deficiencies in the body. Many functional medicine practitioners believe the organic acids test to provide the most useful data for dollars spent of any metabolic test.

When specific organic acids are found in organic acid testing, it may signal a metabolic insufficiency, which could be related to toxicity, a nutritional deficiency, or a hereditary enzyme deficit.

The information provided by organic acid testing can lead to great improvements in numerous other health conditions, including: sleep problems, fatigue, mood swings, weight gain, nausea, joint pain, acid reflux, auto immune disorders, depression, inflammation, headaches, acne/eczema, cancer, and many others.

In our next article, we’ll take a look at other genes that play a significant role in methylation.

Betty Murray, CN, IFMCP, CHC is a Certified Nutritionist & Certified Functional Medicine Practitioner with the Institute for Functional Medicine, founder of the Dallas-based functional medicine clinic Living Well Dallas and Executive Director of the the Functional Medicine Association of North Texas. A master of the biochemistry of the body, Betty teaches her clients how to utilize nutrition for autoimmune diseases, digestive disorders, MTHFR and weight loss. You can find her book “Cleanse: Detox Your Body, Mind & Spirit” on Amazon here.

Want more? Click here to get your free ‘Top 10 Secrets Why You Can’t Lose Weight’ and discover the real reasons you can’t lose weight and what to do about it.

Treatment for MTHFR mutation is a lot simpler than its name!

The MTHFR gene is in charge of Methylenetetrahydrofolate reductase (MTHFR), an enzyme responsible for folic acid metabolism in the body. In this article, we’ll look at the function of this enzyme, why it’s important for fertility and the standard treatment for MTHFR mutation.

Genetics can be quite complicated and the terminology confusing so I’ll stick to the layman’s terms to explain what’s going on in the body if you have this mutation.

Polymorphisms (changes) of this gene can result in MTHFR enzyme malfunction and improper use of folic acid by the cells. [1]

Folate plays an incredible number of roles in the body including: [2]

  • the formation of red blood cells
  • DNA transcribing, protein production
  • cellular energy production and metabolism (Krebs cycle)
  • works closely with B12 and other B vitamins in hundreds of cellular processes

And the list goes on!

Folic Acid and MTHFR Gene Mutation

As you may be aware, folate is crucial for fertility, miscarriage prevention, the formation of your baby’s organs during the crucial first trimester of your pregnancy, when so-called organogenesis – organ formation – takes place. Neural tube defect is just one of the many malformations which can result from inadequate folate intake.

However, if you have MTHFR gene mutation, a normal intake of folic acid will not be enough. In fact, folic acid can downregulate your folate receptors on the cells because there is a lack of MTHFR enzyme to draw it into the cell. This makes it even harder for your cells to get the natural form of folic acid (folate) from vegetables and fruit.

Folate does not need the enzyme to get access to the cell, but if all the receptors are blocked by the synthetic, man-made version of folate, a.k.a. folic acid, then there is no way into the cell until the receptors die and new ones form.

MTHFR Mutation and Homocysteine

It is estimated that approximately 30%-40% of the population have a malfunctioning MTHFR gene [3] . Some have it on both chromosomes and most on just one chromosome. This mutation predisposes you to chronic conditions later in life as result of homocysteine accumulation.

Homocysteine is a free radical our body produces as a result of cellular metabolism [4] – the Krebs cycle. It is also one of the most toxic free radicals for our bodies.

Folate helps break it down to a water-soluble state which can easily be excreted via feces and urine. But when you can’t utilize folic acid properly, homocysteine accumulates in the cells and predisposes you to cardiovascular conditions, recurrent miscarriages, congenital malformations in the baby if you are pregnant, implantation issues, blood clotting issues, cancer and other chronic diseases.

Treatment for MTHFR Mutation

1. Have Yourself and Your Partner Tested.

If you test positive, read on, if you test negative, stick to the recommended dose of 800 micrograms of folinic acid per day. Although you don’t have the mutation, it’s still better to take the activated form of folic acid.

2. Start Taking Methylfolate.

If you tested positive for MTHFR gene polymorphism, you will need to follow the treatment for MTHFR mutation. Start taking 1 mg of folinic acid or methylfolate a day. The methylated form is best (5-MTHF). But you can also over-methylate which is not good either so it’s best to use folinic acid or a supplement that has both methylfolate and folinic acid.

As folate works closely with B12, you will need to increase your dose of B12 as well. Most high dose folinic acid preparations already are combined with B12. And it’s best if the B12 is also activated such as Hydroxocobalamin or Methylcobalamin and Adenosylcobalamin.

You will need a prescription for such a high dose of folinic acid and your doctor who performed the test will be able to write you a script for it.

3. Take Folinic Acid 120 Days Prior to Conception.

To prevent miscarriages make sure to take 1 mg of folinic acid for at least 120 days prior to conception to ensure the batch of eggs you’ll be trying to conceive with has been developing in healthy conditions.

4. Discuss With Your Doctor How Long You’ll Stay on Folinic Acid.

Depending on your medical and family history you may or may not need to stay on such high does of folinic acid for the rest of your life. Your doctor can discuss this with you. And just because this is what is currently being prescribed as a treatment for MTHFR mutation does not mean the treatment will stay the same in 10 years.

Always keep researching and looking for the latest advancements in science. Nothing changes more rapidly than the scientific discoveries!

I’m happy to say that I have been able to successfully treat recurrent miscarriages when the underlying cause was MTHFR gene mutation with high doses of folinic acid.

Please share your thoughts on treatment for MTHFR mutation with me. Do you have it? Are you taking high doses of folinic acid daily? Did it have a positive outcome on your pregnancy? Are you familiar with any other treatments for MTHFR mutation? Would love to hear from you!

References

[1]Puri, M., Kaur, L., Walia, G. K., Mukhopadhhyay, R., Sachdeva, M. P., Trivedi, S. S., . & Saraswathy, K. N. (2013). MTHFR C677T polymorphism, folate, vitamin B12 and homocysteine in recurrent pregnancy losses: a case control study among North Indian women. Journal of perinatal medicine, 41(5), 549-554. Retrieved from: https :// pubmed . ncbi . nlm . nih . gov / 23612630 – mthfr – c677t – polymorphism – folate – vitamin – b12 – and – homocysteine – in – recurrent – pregnancy – losses – a – case – control – study – among – north – indian – women /

[2]Berg, M. J. (1999). The importance of folic acid. The journal of gender-specific medicine: JGSM: the official journal of the Partnership for Women’s Health at Columbia, 2(3), 24-28. Retrieved from: https :// pubmed . ncbi . nlm . nih . gov / 11252849 – the – importance – of – folic – acid /

[3]Dean, L. (2012). Methylenetetrahydrofolate reductase deficiency. Medical Genetics Summaries, 409. Retrieved from: https :// www . ncbi . nlm . nih . gov / books / NBK66131 /

[4]Sibrian-Vazquez, M., Escobedo, J. O., Lim, S., Samoei, G. K., & Strongin, R. M. (2010). Homocystamides promote free-radical and oxidative damage to proteins. Proceedings of the National Academy of sciences, 107(2), 551-554. Retrieved from: https :// www . ncbi . nlm . nih . gov / pmc / articles / PMC2818928 /

As much as half of the population may have an MTHFR gene test mutation which can cause anxiety, insomnia, fatigue, depression and even autism. Find out more with this simple finger prick blood spot test.

What is an MTHFR mutation?

The MTHFR gene provides instructions to produce the MTHFR enzyme. This enzyme is needed to activate folate in the body which is essential for:

  1. Cell division, heart function, DNA synthesis, brain function and memory.
  2. Converting homocysteine into methionine which the body needs for proper metabolism and muscle growth.
  3. The process of methylation which enables the body to detoxify itself.

An MTHFR gene test will identify a defect in the MTHFR gene which can cause abnormally high levels of homocysteine. Elevated homocysteine is associated with cardiovascular disease, high blood pressure, glaucoma, ischaemic stroke and atherosclerosis.

Research also links migraines and depression to inadequate methylation caused by variances in the MTHFR gene.

What we test

MTHFR Mutations

Two relatively common DNA sequence variants known as single nucleotide polymorphisms (SNPs) are tested. These two MTHFR variants are called C677T and A1298C and individuals can inherit one or both variants.

If someone has two copies of the MTHFR C677T, or one copy of C677T and one of A1298C, a decrease in the activity of MTHFR enzyme slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.

If someone has two copies of the MTHFR C677T, or one copy of C677T and one of A1298C, a decrease in the activity of MTHFR enzyme slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.

Test instructions

Your finger prick test kit and all instructions are posted directly to you, and there is no need to visit a collection centre.

You do not need to fast for this blood test.

Results for this test available in 2 weeks and will be published in your online dashboard.