Each of us has a unique genetic makeup, which makes you, well, you. Included in those differences may be certain defects, variations, or mutations. Not to worry, though — everyone has them! Among mutations, methylenetetrahydrofolate reductase, or the MTHFR gene mutation is common.
A tremendous amount of research has surfaced regarding the MTHFR gene mutation and methylation. The mutation links to a decreased ability to detoxify. It also connects to 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®. Empower your body by obtaining the nutrients necessary for optimal detoxification.
Our Genes, Including MTHFR Mutations, Are Not Our Destiny
We used to think that our genes were static—we now know that’s not true! An emerging science called epigenetics shows us that genes can be turned on and off. In fact, a study using identical twins with autoimmunity showed the autoimmune disease risk is only 25% dependent on genetics. The other 75% is dependent on environmental factors.
Your genes are not your destiny. There are three simple steps you can take to help overcome this gene mutation and minimize its effects.
- Educate yourself on the MTHFR gene mutation and its potential impact on your health. We’ll be covering that in this article.
- Get an MTHFR mutation test.
- Work to prevent the development of health conditions associated with MTHFR mutations.
First, let’s discuss what MTHFR is and its purpose.
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. Every single cell and tissue in your body experiences methylation.
Why Do You Need Methylation?
Methylation Support® is one way to ensure the MTHFR gene mutation does not negatively impact your health. 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 Do?
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 than those without. This information indicates 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 producing the MTHFR enzyme.
However, genetic mutations or variations often occur in the MTHFR gene. These are referred to as SNPs (pronounced ‘snips’), 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 diseases. SNPs 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 can do its job effectively. When your ability to methylate is decreased, the mutation has a greater potential to impact your health. I am homozygous, meaning I have two MTHFR GENE mutations at C677T, so I’ve done extensive research on this topic.
One of the most important ways to support your health is to supplement daily with Methylation Support®. This is especially true if you have one or more MTHFR mutations. This formula contains the three co-factors needed for methylation in their pre-methylated or active forms.
Does the MTHFR Mutation Affect Your Autoimmune and Thyroid?
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 several diseases, including autoimmunity and thyroid dysfunction.
I’ve worked with thousands of patients in my clinic. I noticed trends regarding 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 usually have at least one MTHFR mutation. This is particularly true for those with Hashimoto’s, scleroderma, and rheumatoid arthritis. 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 thyroid dysfunction, it’s crucial to understand your MTHFR gene mutation status. I recommend getting tested for heavy metals. I also suggest working with a functional medicine physician to safely remove or chelate these metals from your system.
Other Conditions that Affect Methylation
MTHFR mutations are not the only factor affecting your methylation and well-being. Other conditions can impair your methylation by depleting your folate levels, interfering with your enzyme function, or increasing your demand for methylation.
Oxidative stress begins when molecules are missing an electron. We call these molecules free radicals. Free radicals are unstable molecules that can damage cells and DNA. Normal metabolic processes and environmental factors such as toxins, radiation, and inflammation generate them.
These free radicals try and steal electrons from healthy cells, damaging them in the process.1 Think of these damaged cells, or free radicals, as rusty particles traveling through your bloodstream and causing inflammation. This is the process known as oxidative stress.
Oxidative stress can impair your methylation by depleting your folate levels and interfering with your enzyme function.2 Oxidative stress can impact your detoxification by lowering glutathione levels, one of your body’s most potent antioxidants and detoxifiers.
Inflammation is a normal immune response to injury or infection. That said, if inflammation becomes chronic, it can cause damage to your tissues and organs. This can impair your ability to methylate by increasing your body’s demand for methylation.
Inflammation can also increase your oxidative stress and lower your glutathione levels, further impairing your methylation and reducing your detoxification capacity. 3
Your gut microbiome influences many aspects of your physiology, including your immune system, metabolism, mood, and brain function. Your gut health can also affect your methylation by influencing your folate levels and absorption.
Your stomach’s bacteria can produce folate that your body can use, but they can also consume folate that you ingest from food or supplements. This bacteria can also affect the bioavailability of folate by altering its form or binding to it. Therefore, having a healthy and balanced gut microbiome is essential for optimal methylation.4
These conditions can also interact and create a vicious cycle that worsens your methylation and health. For example, oxidative stress can trigger inflammation, damaging your gut lining and causing leaky gut syndrome. This can further increase inflammation and oxidative stress. This cycle can also exacerbate chronic health conditions such as autoimmune diseases, cardiovascular diseases, and neurodegenerative diseases.
How Does Detox Happen with an MTHFR Mutation?
In my clinic, my patients and I often uncovered one or more MTHFR mutations behind their reduced detoxification. I used a hypothetical example to demonstrate these mutations’ impact on the detoxification process. You can learn more about mercury overload in this article.
Let’s say you eat a piece of tuna fish containing ten parts of mercury. If you have no mutations at MTHFR, you will excrete all ten parts of mercury at 100%. This is 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.
I have two MTHFR gene mutations at C677T. If you’re like me, your ability to detoxify the mercury is decreased by a whopping 90%.
So every time you eat tuna, you keep nine parts of mercury and clear only one. This does not account for daily exposure to mercury through water, air, and other sources you cannot control. You have a tremendous amount of control over how your genes are expressed.
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.
Your genetic code cannot be rewritten. That said, you do have a tremendous amount of control over 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
If you suspect you have one or more MTHFR mutations, I recommend a high-grade Methylation supplement. Methylation transforms toxins into safer substances that will not harm your body but depend on several vitamins and cofactors. These include folate, vitamin B12, and vitamin B6.
I designed my Methylation Support® to support detoxification in 60% of US adults with one or more MTHFR genes. This product promotes healthy methylation status in the liver and optimizes adrenal function. My Methylation Support® formula assists the body in handling stress by offering methylated and coenzyme forms of B vitamins for optimal bioavailability.
Optimize your detoxification with a methylation formula that balances your MTHFR genetic deficiencies to support vibrant energy production.
Who Should Test for MTHFR Mutations?
It’s my firm belief that knowledge is power. Understanding your MTHFR mutation test status is an empowering tool. Use it 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 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. MTHFR contributes to those conditions as well.
Additionally, I encourage those who have newborns or young children to pursue an MTHFR mutation test.
Determining which vaccines your child receives and when they receive them is a personal choice. It’s essential to know 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.
As a mother, getting an MTHFR mutation test for my daughter, Elle, was high on my priority list.
Knowing how MTHFR mutations affect your detoxification ability demonstrates why awareness of your MTHFR status is critical.
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.
There is a test from 23andMe you can order online that many of the patients from my clinic use. 23andMe is a genetics home reference option. This test doesn’t require a physician’s prescription. It tests for hundreds of SNPs, including MTHFR gene mutations.
Unfortunately, 23andMe results come in a raw data format. You’ll need another tool or service to get a readout of your MTHFR gene mutation status and other SNPs.
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.
This test checks for fewer SNPs than 23andme yet does include MTHFR. It delivers all the data in a format 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 is a homocysteine-level test. Insurance typically covers this test, as it’s a test 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 convert as much.
So, with an MTHFR mutation, your blood typically has high homocysteine levels. Elevated homocysteine indicates undermethylation, and low homocysteine can indicate either over or undermethylation.
Optimal Homocysteine Levels
An optimal homocysteine level is 6-9 umol/L. If someone’s homocysteine level is elevated above 10 umol/L, there is one MTHFR mutation. 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. Too low of a homocysteine level, such as 2 or 4 umol/L, can indicate that you are not methylating. A low level can also mean that you are over-methylating. Both undermethylation and over-methylation are problematic.
6 Ways to Overcome MTHFR Mutations
If you’ve discovered you have one or more MTHFR mutations, you might feel like 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.
By following the same simple steps I used, you, too, can work around your genes. You have the power to get your body methylating in an optimal range.
1. Supplement with Pre-Methylated B Vitamins
MTHFR mutations reduce your ability to methylate. Therefore, 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.
- B12 in its active form. You can learn more about the importance of the B2 vitamin in this article.
My Methylation Support® is the perfect blend of the nutrients your body needs. It helps 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. Pre-methylated and active forms of the B vitamins increase folate levels and decrease homocysteine levels.
If you have one or more MTHFR mutations, I recommend supplementing with Methylation Support® daily.
You may want to consider a different medication if you have two MTHFR mutations, even with a supplement to support methylation. My 6-week Autoimmune Solution Program will also help you address the underlying causes of your condition. This program 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. Your body is not able to convert folic acid. Folic acid is synthetic and can be found in fortified and processed foods.
Taking folic acid is harmful if it stays 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 me, diet alone may not deliver enough B vitamins to methylate optimally. You may want to consider supplementing with Methylation Support®.
4. Reduce Your Toxic Burden
Everyone should try to reduce their toxic burden. MTHFR gene mutations reduce your ability to detoxify heavy metals. Therefore, minimizing your exposure to toxins is vital 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, check out my podcast episode. The biological dentist, Stuart Nunnally, and I discussed how to remove amalgam fillings safely.
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. I also cover toxic burden reduction in my books, The Autoimmune Solution and The Thyroid Connection.
5. Flush Out Toxins Safely
Those of us with MTHFR mutations should focus on supporting our detox pathways to flush toxins out safely.
Eat cruciferous vegetables
Cruciferous vegetables include arugula, broccoli, Brussels sprouts, and collard greens. They’re 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. It can be exercise, or you can try 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. Glutathione plays a significant 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 daily and 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. It supports detoxification through its major role in producing 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. I take them both daily, no matter what. I recommend both for everyone who has, or suspects they have, an MTHFR gene mutation.
Final Thoughts on MTHFR Gene Mutation
Remember, knowledge is power. Knowing your MTHFR status and what you can do about it is a substantial first step in taking control of your health! Even if life dealt you a particular genetic hand, remember you have plenty of choices in how you play your cards.
FAQs about MTHFR gene mutation
What are the MTHFR gene mutation symptoms?
What are the MTHFR gene mutation symptoms?
Symptoms of the MTHFR gene mutation include neural tube defects, sugar bug vein, and chronic fatigue and pain.
What do you do if you have the MTHFR gene mutation?
What do you do if you have the MTHFR gene mutation?
If your MTHFR mutation test indicates that you have the mutation, you should take methylation supplements, follow a MTHFR detox protocol,
How do you know if you have the MTHFR gene mutation?
How do you know if you have the MTHFR gene mutation?
You should take a MTHFR mutation test. You should also look out for MTHFR gene mutation symptoms including sugar bug vein, chronic pain and fatigue, heart disease, autoimmune disorders, and some cancers.
Can the MTHFR gene mutation cause autoimmune disorders?
Can the MTHFR gene mutation cause autoimmune disorders?
The MTHFR gene mutation can cause autoimmune disorders. Since the MTHFR gene mutation causes the body to be less able to methylate, it is hard for the body to detoxify. Toxins in the body can lead to autoimmune disorders.
- Everything You Should Know About Oxidative Stress. Megan Dix, RN-BSN. Healthline. 2018.
- Folic acid modulates VPO1 DNA methylation levels and alleviates oxidative stress-induced apoptosis in vivo and in vitro. Shanshan Cui, et al.. ScienceDirect. 2018.
- Oxidative stress and regulation of glutathione in lung inflammation. Rahman I.. National Library of Medicine. 2000.
- Microbial Metabolic Capacity for Intestinal Folate Production and Modulation of Host Folate Receptors. Melinda A. Engevik, et al.. Front Microbiology. .