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

July 9th, 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 surfaced regarding the MTHFR gene mutation. 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. Luckily, anyone with the MTHFR gene mutation can support their methylation and detoxification pathways with Methylation Support® and obtain the nutrients necessary for optimal detoxification.

Our Genes Are Not Our Destiny

In addition to 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.1

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.

I believe there are three steps to identifying and overcoming MTHFR mutations. First, 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 dig into the second and third steps. Step two is getting tested. Step three is helping to 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 (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 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.

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.2 Which 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 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 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

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 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 did 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, 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, and when there are mutations at MTHFR, 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 impact your ability to methylate.

If you have an autoimmune condition, particularly Hashimoto’s, Graves’, or thyroid dysfunction, it’s important to understand your MTHFR 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 Much Mercury is Detoxified?

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.

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 mutation at C677T 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 mutations at MTHFR, like me, 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.


In my clinic, I saw less than ten patients who had no mutations at MTHFR—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.

Support Optimal Methylation and Detoxification

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 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 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 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

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