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The MTHFR Gene Mutation: What it is and Why it is Important for YOU!

The MoTHr F*ckR Gene

MTHFR Mutation



What it is and What to do about it…






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.


Nick Named by patients and some doctors, The MoTHr F*ckR Gene,

 because it can negatively impact your health in so many ways.


It is associated with over 60 chronic health conditions, including hypothyroidism, blood clots, autoimmune disease, infertility, cardiovascular disease, Alzheimer’s, depression, birth defects, frequent miscarriage,infertility, strokes, diabetes, high blood pressure, high cholesterol, and certain cancers. 


If you have any of these conditions or if you see a family history pattern of any of these diseases, you may have the MTHFR Mutation too.


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.

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


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.  I call it the Key that helps everyone get into the Party.  


Why Do You Need 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 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. 


MTHFR Gene Mutation

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.

One of the most important ways to support your health is to supplement daily with Methyl-Cardio-B 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.


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: 

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.

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. 

Gut Health: 

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. These 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.


How Does Detox Happen with an MTHFR Mutation?


One or more MTHFR mutations may reduce your detoxification abilities.

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. 

Most people have at least one, if not two, mutations at MTHFR.

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. 

Methyl-Cardio B is designed 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. This formula assists the body in handling stress by offering methylated and coenzyme forms of B vitamins for optimal bioavailability.


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’, autoimmune disease, diabetes, heart disease, strokes, clotting disorders, high cholesterol, high blood pressure, and cancer.   Or if you have a family history that includes these diseases. 


What Tests for MTHFR Mutations Are Available?

MTHFR Gene Mutation Testing

Lab Testing used to be costly and required a prescription and a blood sample. Testing for the MTHFR Gene Mutation can be done by a Medical Doctor.

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.  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.

DNA life

DNA Life offers genetic SNP testing with just a mouth swab instead of saliva samples. This is much easier for babies and children.  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.

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.


6 Ways to Overcome MTHFR Mutations


  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. 

  1. Folate in its pre-methylated form (5MTHF), 
  2. B6 in its active form.
  3. B12 in its active form.

Methyl-Cardio B is the perfect blend of the nutrients your body needs. It helps engage in optimal methylation for your MTHFR detox protocol. 

  1. 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. 

  1. 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.


Folic acid rich foods

  1. 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 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.

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.

  1. Flush Out Toxins Safely

Those of us with MTHFR mutations should focus on supporting our detox pathways to flush toxins out safely.   My Detox Program and Detox Smoothie help to support the bodies Detoxification pathways.

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 Infrared Saunas.


Detox Foods and Nutrients

  1. Balance Your MTHFR Mutation with Supplements


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 my patients with autoimmunity and MTHFR mutations.

Liver Support

A good methylation supplement contains N-acetyl, L-cysteine, alpha-lipoic acid, milk thistle, and selenium. These Liver Support Supplements help your body produce Glutathione.


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.

Methyl-Cardio B

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 your genetic future plays out.