What is an MTHFR Mutation? And What to Do About It

June 12th, 2019

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—everyone has them!

Recently in functional medicine and increasingly in mainstream medicine, a tremendous amount of research has surfaced regarding the MTHFR gene mutation. This mutation has been linked 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.

The good news is that, while we used to think that our genes were static and there was nothing we could do about them, we now know that is not true! An emerging science called epigenetics shows us that genes can be both turned on and turned off.1

In fact, studies using identical twins with autoimmunity have shown that the risk of getting an autoimmune disease is only 25% dependent on genetics and 75% dependent on environmental factors. This means that your genes are not your destiny. There are simple steps you can take to help overcome this gene mutation, minimize its effects, and help prevent the myriad of conditions it has been linked to.

I believe there are three steps to identifying and overcoming MTHFR mutations. The first step is to educate yourself on what the MTHFR gene mutation is and its potential impact on your health. We’ll be covering that in this article. In part two we’ll dig into the second and third steps: how to get tested and how to help prevent the development of health conditions associated with MTHFR mutations. Let’s get started!

What is MTHFR?

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

Every single cell and tissue in your body experiences methylation. Methylation protects your body by repairing damaged cells, optimizing DNA cell function, processing toxins and hormones, metabolizing B vitamins, and regulating neurotransmitters. The neurotransmitters including dopamine, serotonin and norepinephrine control mood, behavior, sleep, and your overall mental health.

One of the most important tasks methylation performs is turning homocysteine into methionine. Methionine is a veritable powerhouse—it 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.2 Which is an indication that they may have a genetic mutation associated with the MTHFR gene.

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

What is the MTHFR Gene and the Genetic Mutation?

The MTHFR gene (not to be confused with the MTHFR enzyme) is one of 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 about once in every 300 nucleotides, and helping us locate genes associated with disease. Sometimes they play a more significant role by directly affecting a gene’s function.

The MTHFR SNP is common, approximately 50% of the US population carries at least one SNP. The two MTHFR genes that have been studied the most 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 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 mutations) at C677T, so I have done a lot of research on this topic. I have seen that 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, Autoimmune, and Thyroid Connection

As I have mentioned, the more mutations you have at the MTHFR gene, the less the MTHFR enzyme can do its job effectively. 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 have come to see a lot of trends as to root causes of autoimmunity, thyroid dysfunction, and other chronic illnesses. The methylation process helps you detoxify heavy metals such as lead and mercury. When there are mutations at MTHFR, a person cannot detoxify their body effectively, and heavy metals often 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, almost always have at least one MTHFR mutation. In Hashimoto’s patients, or in anyone with an underactive thyroid, the issue is compounded because low thyroid levels already negatively impact your ability to methylate.

If you have any autoimmune condition, particularly if it’s Hashimoto’s, Graves’, or another thyroid dysfunction diagnosis, it’s important to understand your MTHFR status. If you do have one or more mutations, I’d recommend you get tested for heavy metals (I write about which test I prefer in both my books), and work with a functional medicine physician to safely remove or chelate these metals from your system.

After discovering my two MTHFR mutations, I was able to connect the dots in my health history between eating a lot of tuna fish growing up (high in mercury), the large number of shots I received as a Peace Corps Volunteer, traveling through high coal burning areas in China and Texas, and my eventual Graves’ diagnosis.

When I worked with patients in my clinic and we uncovered that they had one or more MTHFR mutations, I used a hypothetical example to demonstrate the impact these mutations have on the detoxification process:

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 working optimally.

If you have one mutation at C677T then your ability to detoxify the mercury is decreased by 50% which means you can only detoxify five parts of mercury and you store the other five parts. If you have two mutations at MTHFR, like me, at C677T, your ability to detoxify the mercury is decreased by a whopping 90%. This means 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 your daily exposures to mercury through water, air, and other food sources, many of which you cannot control.


Over the last decade in my clinic, I saw less than ten patients who had no mutations at MTHFR—these people can detoxify well and therefore don’t tend to develop thyroid dysfunction or autoimmunity. Most patients had at least one if not two mutations at MTHFR, and only once have I see a patient with three mutations at MTHFR—one at C677T and two at A1298C.

Remember, 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.

It’s why I take a Methylation Support™ supplement daily and I will continue to do so for the rest of my life. It’s also why I recommend that those with MTHFR mutations do so as well. By supporting your methylation and detox pathways you can overcome the hurdles of MTHFR mutations!

In Part II of this series, I cover how to get tested for MTHFR mutations, and the steps you can take to help prevent any negative impacts on your health.

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

Click here to feel the difference!

Article Sources

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1392256/
  2. https://www.ncbi.nlm.nih.gov/pubmed/15386533

Get 35 Gut Recovery Recipes for Free!

Receive 74 pages of delicious recipes and tips to repair a leaky gut PLUS a $10 gift card when you join my free weekly newsletter

 
 

Your information is secure and will never be sold or rented to a third party.

Related Articles