The MTHFR Mutation: What It Is and What to Do About It

Each of us has a unique genetic makeup, which is the ‘code’ that makes you, well, you. Included in those differences may be certain defects, variations or mutations. Not to worry, though — everyone has them! The MTHFR gene mutation is a common one.

Recently in functional medicine and increasingly in mainstream medicine, a tremendous amount of research has surfaced regarding the MTHFR gene mutation and MTHFR support. The mutation links to a decreased ability to detoxify, as well as over 60 chronic health conditions including Hashimoto’s and hypothyroidism, blood clots, infertility, cardiovascular disease, Alzheimer’s, depression, birth defects, and certain cancers. 

Fortunately, anyone with the MTHFR gene mutation can find MTHFR support and detoxification pathways with Methylation Support® and obtain the nutrients necessary for optimal detoxification.

Our Genes, Including MTHFR Mutations, Are Not Our Destiny

In addition to supplementing with Methylation Support®, we can work with our bodies to ensure the MTHFR gene mutation does not negatively impact our health. We used to think that our genes were static and there was nothing we could do about them — we now know that’s not true! An emerging science called epigenetics shows us that genes can be both turned on and turned off.

In fact, studies using identical twins with autoimmunity showed the risk of getting an autoimmune disease is only 25% dependent on genetics and 75% dependent on environmental factors. Your genes are not your destiny. There are simple steps you can take to help overcome this gene mutation and minimize its effects.

3 Steps to Identifying and Overcoming MTHFR Mutations

I believe there are three steps to identifying and overcoming MTHFR mutations.

1. Educate yourself on what the MTHFR gene mutation is and its potential impact on your health. We’ll be covering that in this article. 
2. Get a MTHFR mutation test. 
3. Work to prevent the development of health conditions associated with MTHFR mutations.

Let’s get started!

What is MTHFR?

Methylenetetrahydrofolate reductase (MTHFR), is an enzyme that works as a catalyst for important biochemical reactions in your body. It converts vitamin B9 (folate) into methyl-folate which is essential for a process called methylation.

Methylation protects your body by repairing damaged cells and optimizing DNA cell function. It also processes toxins and hormones, metabolizes B vitamins, and regulates neurotransmitters. The neurotransmitters including dopamine, serotonin, and norepinephrine control mood, behavior, sleep, and your overall mental health.

What Does MTHFR Produce?

One of the most important tasks methylation performs is turning homocysteine into methionine. Methionine builds proteins, repairs cells, detoxifies, supports your inflammatory response, and helps your liver process fats.

Most importantly, methionine produces glutathione, your body’s most potent detoxifier. Research shows that those with autoimmunity and cancer have lower levels of glutathione compared to people without those conditions. This information indicates that they may have a genetic mutation associated with the MTHFR gene.

Additionally, methionine is broken down by your liver into an inflammation-fighting agent called SAM-e (s-adenosylmethionine). SAM-e helps break down neurotransmitters and assists with the repairing of cells.

What is the MTHFR Gene and the MTHFR Mutation?

The MTHFR gene (not to be confused with the MTHFR enzyme) is one of the 20,000 genes in the human body. It is a ‘master instruction sheet’ for the production of the MTHFR enzyme.

However, genetic mutations or variations often occur in the MTHFR gene. These are referred to as SNPs (pronounced ‘snips’), which is short for single nucleotide polymorphisms. Each SNP represents one difference in a “building block” of DNA. Some SNPs have no effect on your health, serving as biological markers that occur about once in every 300 nucleotides. They help us locate genes associated with disease, and sometimes play a more significant role by directly affecting a gene’s function.

SNP Mutations in MTHFR

The MTHFR SNP is common — approximately 50% of the US population carries at least one SNP. Two MTHFR genes commonly studied are C677T and A1298C (these labels indicate the mutation’s appearance and location on the gene). At each of these genes, you can have none (wild type), one (heterozygous), or two (homozygous) mutations.

The more MTHFR gene mutations you have, the less the MTHFR enzyme is able to do its job effectively. When your ability to methylate is decreased there is a greater potential for the mutation to impact your health.

I am homozygous (two MTHFR GENE mutations) at C677T, so I’ve done a lot of research on this topic. One of the best and most important ways to support your health if you have one or more MTHFR mutations is to supplement daily with Methylation Support®. This supplement contains the three co-factors needed for methylation, in their pre-methylated or active forms.

The MTHFR Mutation, Autoimmune, and Thyroid Connection

As I have mentioned, the more MTHFR gene mutations you have, the less effectively the MTHFR enzyme can do its job. This enzyme is crucial for your body to methylate properly. When it does not, you’re at risk for developing a number of diseases including autoimmunity and thyroid dysfunction.

After working with thousands of patients in my clinic, I was able to see a lot of trends as to the root causes of autoimmunity, thyroid dysfunction, and other chronic illnesses. The methylation process helps you detoxify heavy metals, and when there are MTHFR mutations, a person cannot detoxify their body effectively. Heavy metals can then lie at the root of their autoimmunity or other chronic conditions. For that reason, taming the toxins is the third pillar of The Myers Way® Autoimmune Solution Program.

Autoimmune patients with high mercury levels, particularly those with Hashimoto’s, scleroderma, and rheumatoid arthritis, usually have at least one MTHFR mutation. In Hashimoto’s patients, the issue is compounded because an underactive thyroid already negatively impacts your ability to methylate.

If you have an autoimmune condition, particularly Hashimoto’s, Graves’, or thyroid dysfunction, it’s important to understand your MTHFR gene mutation status. I recommend getting tested for heavy metals and working with a functional medicine physician to safely remove or chelate these metals from your system.

How Does Detox Happen with an MTHFR Mutation?

In my clinic, when my patients and I uncovered one or more MTHFR mutations, I used a hypothetical example to demonstrate the impact these mutations have on the detoxification process. You can learn more about mercury overload in this article.

Let’s say you eat a piece of tuna fish and it contains ten parts of mercury. If you have no mutations at MTHFR, you will excrete all ten parts of mercury at 100%, assuming your detox pathways are optimal.

If you have one MTHFR C677T mutation then your ability to detoxify the mercury is decreased by 50%. This means you can only detoxify five parts of mercury and you store the other five parts. If you have two MTHFR gene mutations, like I do, at C677T, your ability to detoxify the mercury is decreased by a whopping 90%. 

So you keep nine parts of mercury and clear only one part of mercury every time you eat a tuna fish sandwich. This does not account for daily exposures to mercury through water, air, and other sources that you cannot control.

At my clinic, I saw less than ten patients who had no MTHFR mutations — these people can detoxify well. Most patients had at least one if not two mutations at MTHFR. Only once did I see a patient with three mutations at MTHFR — one at C677T and two at A1298C.

Although your genetic code cannot be rewritten, you do have a tremendous amount of control as to how your genes are expressed. Your diet and lifestyle play a HUGE role in how your genes affect your health.

How to Support Optimal Methylation and Detoxification if You Have an MTHFR Mutation

Your MTHFR support detox protocol is extremely important. It’s why I take Methylation Support® daily, and I will continue to do so for the rest of my life. I recommend that those with MTHFR mutations symtoms do so as well. When you support your methylation and detox pathways by following a MTHFR detoc protocol, you can support your MTHFR mutation and overcome the hurdles of MTHFR mutation symptoms!

I designed Methylation Support® for the 60% of US adults, and many others internationally, who have one or more MTHFR gene variants impairing their body’s critical methylation process. Virtually every single patient battling chronic health challenges has at least one MTHFR mutation. Methylation Support® is the perfect blend of the nutrients your body needs to engage in optimal methylation for your MTHFR detox protocol. I custom selected these nutrients in their most bioavailable forms to support your body’s natural methylation and detoxification efforts.

Who Should Test for MTHFR Mutations?

I firmly believe that is knowledge is power, and understanding your MTHFR mutation test status is an empowering tool to take back your health and eliminate MTHFR mutation symptoms!

I strongly recommend that everyone, especially women of childbearing age, gets a MTHFR mutation test. MTHFR gene mutations have been found in medically reviewed studies to increase the risk factor of miscarriage and birth defects, including spina bifida. It is equally important if you have a history of Hashimoto’s, Graves’, or any other autoimmune disease, as MTHFR contributes to those conditions as well.

Additionally, I encourage those who have newborns or young children to pursue a MTHFR mutation test. Determining which vaccines your child receives and when they receive them is a personal choice. Knowing your child’s MTHFR gene mutation status, and how the vaccines may impact their health through an adverse event if they have an MTHFR mutation, is an important part of the decision. As a mother, getting an MTHFR mutation test for my daughter, Elle, was high on my priority list.

This theoretical illustration of how MTHFR mutations affect your ability to detoxify demonstrates why it is so important for you to know your MTHFR status.

What Tests for MTHFR Mutations Are Available?

Lab testing to check for MTHFR mutations used to be costly, and required a prescription and a blood sample. However, genetic testing is now much more affordable, accessible, and convenient. There are a variety of companies that now test for MTHFR mutations. Here are two companies that I and my patients used.

23andMe

There is a test from 23andMe which can be ordered online that many of the patients from my clinic used. 23andMe is a genetics home reference option that does not require a physician’s prescription, and it tests for hundreds of SNPs including MTHFR gene mutations.

Unfortunately, 23andMe results come in a raw data format. This means you need another tool or service to get a readout of your MTHFR gene mutation status and the other SNPs they test for.

Dnalife®

I discovered a company called dnalife® that offers genetic SNP testing with just a mouth swab instead of saliva samples. This is much easier for babies and it’s what I used for my daughter, Elle. The test checks for fewer SNPs than 23andme yet does include MTHFR.  It delivers all of the data in a format that you or your doctor can easily interpret. This option usually requires a functional medicine physician to order it for you.

As a favor to me, dnalife® agreed to let you order your own MTHFR test without a doctor’s prescription. If you want additional SNPs, you need to ask your functional medicine doctor to order those for you.

Blood Test for MTHFR

You, of course, can always ask your primary care physician to order an MTHFR gene mutation  blood test for you. However, most insurance companies do not cover this and may leave you with an $800-$1,000 bill.

A less expensive option than MTHFR that is typically covered by insurance is a homocysteine level test that your doctor performs for you. This option is less definitive, so the results are not as comprehensive.

Homocysteine Levels Can Indicate MTHFR Mutations

As I mentioned earlier, the methylation process converts homocysteine into methionine. With one or more MTHFR mutations and a reduced ability to methylate, your body won’t be able to convert as much of it. This means with an MTHFR mutation, you typically have high levels of homocysteine in your blood. High homocysteine is an indication of undermethylation, and low homocysteine can indicate either over or undermethylation.

High homocysteine levels can negatively impact mental health and mood. It is linked to cardiovascular disease, high blood pressure, an inability to detoxify, and blood vessel damage.

If it is as high as 18 umol/L, there are likely two MTHFR mutations. On the flip side of that, too low of a homocysteine level such as 2 or 4 umol/L can indicate that you are not methylating or you are over methylating. Both undermethylation and over methylation are problematic.

6 Ways to Overcome MTHFR Mutations

So you’ve discovered you have one or more MTHFR mutations, and you might be feeling as though your genes control your destiny. I get it, trust me, I do. I have two MTHFR mutations at C677T, and my ability to methylate based on my genes cut down to 10%. It’s likely one of the reasons I developed Graves’ disease. The truth is that by following the same simple steps I used, you too can work around your genes and get your body methylating in an optimal range.

1. Supplement with Pre-Methylated B Vitamins

MTHFR mutations reduce your ability to methylate, so one of the best things you can do is supplement with the three main vitamins needed for methylation: folate in its pre-methylated form (5MTHF), B6 in its active form, and B12 in its active form. You can learn more about the importance of the B2 vitamin in this article.

I take a supplement called Methylation Support® every day. It contains all three of those essential B vitamins. I recommended this supplement to all of my patients with MTHFR mutations.

If you have one or more MTHFR mutations I recommend supplementing with Methylation Support® daily.

I strongly recommend supplementing with Methylation Support® if you have been prescribed methotrexate as part of your treatment for autoimmunity because methotrexate blocks folate pathways. If you have two MTHFR mutations, even with a supplement to support methylation, you may want to consider a different medication. My 6-week Autoimmune Solution Program will also help you address the underlying causes of your condition and can help you transition off of harsh medications altogether.

2. Avoid Folic Acid (Synthetic B Vitamins)

As a reminder, simply increasing your folic acid will not help balance out an MTHFR mutation because your body is not able to convert the folic acid. Taking folic acid, which is synthetic and can be found in fortified and processed foods, is harmful because it can stay in your body unconverted. The unconverted folic acid attaches itself to the same receptors used to absorb folate, and “clogs them up” so to speak.

3. Eat Foods Rich in B Vitamins

To help mitigate the effect of MTHFR mutation symptoms, get plenty of B vitamins naturally through your diet. The highest folate-rich foods include asparagus, romaine lettuce, broccoli, avocado, and dark, leafy greens such as spinach and kale. Foods high in B6 include poultry, seafood, bananas, and leafy green vegetables. Add more vitamin B12 to your diet with fish, poultry, and meat.

However, if you have two MTHFR mutations like I do, diet alone may not get you enough B vitamins to methylate optimally, and you may want to consider supplementing with Methylation Support®.

4. Reduce Your Toxic Burden

Everyone should try to reduce their toxic burden. However, because MTHFR gene mutations reduce your ability to detoxify heavy metals, it’s especially important to minimize your exposure to toxins if you have one or more MTHFR gene mutations. Here are steps you can take to limit your exposure to heavy metals:

Filter your air

Mercury can be in the air near coal-burning plants. Avoid breathing it in by using a HEPA filter in your home and office.

Filter your water

Due to pollution and runoff, mercury can be found in our water supply. To protect your water I recommend installing water filters on all of your taps and showerheads. Your skin absorbs chemicals too!

Remove amalgam fillings safely

Amalgam fillings contain mercury and emit a mercury vapor that can leach into your bloodstream. For more information on the risks of amalgam fillings and how to remove them safely, check out my podcast episode with the biological dentist, Stuart Nunnally.

Choose fish that are not high in mercury

The Environmental Defense Fund has a list of fish that are typically high in mercury and should be avoided. There is also a preferred list of those that are low in mercury. You can learn more about reducing your toxic burden in this post, and in my books, The Autoimmune Solution and The Thyroid Connection.

5. Flush Out Toxins Safely

Eat cruciferous vegetables

These vegetables, including arugula, broccoli, Brussels sprouts, and collard greens, are rich in antioxidants and act as great MTHFR support for safe detoxification.

Excrete the toxins

Drink plenty of water, optimize your digestion, and do activities that help you sweat, such as exercise or using an infrared sauna.

6. Balance Your MTHFR Mutation with Supplements

Add in Glutathione

Glutathione is a great methylation supplement. This is your body’s most important detoxifier, and it plays a big role in reducing your risk of developing an autoimmune disease. Your ability to produce glutathione diminishes if you are not methylating properly. I take this methylation supplement every day and would recommend it to all of my patients with autoimmunity and MTHFR mutations.

Take a Liver Support Supplement

The methylation supplement I offer contains N-acetyl, L-cysteine, alpha-lipoic acid, milk thistle, and selenium. This MTHFR supplement supports antioxidant activity and promotes a healthy immune system. In addition, Liver Support helps your body’s glutathione production.

Increase Your Magnesium

Magnesium is a great MTHFR supplement that supports the detoxification process through its major role in the production of energy as ATP. This methylation supplement provides cells with what they require to pump out toxins before, during, and after they accumulate.

Don’t forget the Methylation Support®

As I mentioned above, you want to be sure you’re taking an MTHFR methylation supplement. This and glutathione are the two absolute go-to MTHFR vitamins and supplements that I take daily no matter what and what I recommend for everyone who has, or suspects they have, an MTHFR gene mutation.

Remember knowledge is power, so knowing your MTHFR status and understanding what you can do about it is a huge first step in taking control of your health! Even if life dealt you a certain genetic hand, remember you have plenty of choices in how you play your cards!