A few years ago, as at-home DNA tests became more popular, people began learning more about their unique genetic makeup and how it lays the foundation for their health. One of the genes with the biggest buzz surrounding it was the MTHFR gene.

I often see patients in my clinic with one or more mutations in this gene, particularly in patients with autoimmunity, thyroid conditions, and hormone imbalances. However, one factor a lot of the online buzz missed is that this gene does not determine your health destiny, it’s simply one piece of a bigger whole.

The power of functional medicine is that it takes a personalized approach that leverages your unique genetic makeup, health history, and lifestyle to create a path to optimal wellness. In this article, we’ll look at what MTHFR mutations are, how they might impact your health, and practical tweaks you can make to your wellness routine if you have one.

What are MTHFR Mutations?

MTHFR stands for methylenetetrahydrofolate reductase. The MTHFR enzyme converts vitamin B9 (folate) into methyl-folate which is essential for a process called methylation. Methylation repairs cells and DNA, processes toxins and hormones, metabolizes B vitamins, and regulates neurotransmitters.

The MHTFR gene provides your body with an instruction sheet for creating the MTHFR enzyme. If you have mutations at this gene, your body will not appropriately create the MHFR enzyme and your ability to methylate is reduced.

You can have one, two, or zero mutations on the MTHFR gene, with two possible variations of mutation.

It is believed that having two mutations (homozygous) may lead to more serious health conditions than having one variant (heterozygous).

An estimated 30-45% of Americans may have a mutation at C677T. Variations at A1298C are less studied, but one study found that 7-14% of North Americans, Europeans, and Australians had mutations at this spot.

How Do MTHFR Mutations Impact Your Health

Since methylation plays such an important role in your health, mutations in the MTHFR gene can cause your body to function less than optimally and increase your risk for certain health conditions.

Methylation is critical for detoxification, so MTHFR mutations leave you more susceptible to mold toxicity, heavy metals, and the barrage of toxins we are exposed to in our food, water, air, and household products.

Chronic Disease
A high toxic burden can in turn increase your risk for autoimmune disease, thyroid conditions, and other chronic illnesses. Inhibited methylation also leads to high levels of homocysteine, which is an inflammatory amino acid. It has been specifically linked to autoimmune disease and we know that chronic inflammation increases your overall risk for chronic illness.

Infertility & Hormone Imbalance
Poor methylation has also been linked to infertility and many women who struggle with recurrent miscarriages, preeclampsia, and whose fetuses have neural tube defects are found to have MTHFR mutations.

The methylation process also helps break down hormones, so when it is reduced, estrogen, progesterone, testosterone, and thyroid hormones can become imbalanced.

Mood & Neurological Disorders
Methylation plays a role in the production of neurotransmitters, including serotonin, dopamine, adrenaline, norepinephrine, and melatonin. It’s no surprise then that MTHFR mutations have been linked to depression, anxiety, ADHD, and autism.

How to Test for MTHFR Mutations

One of the easiest ways to determine your MTHFR status is to order a 23andMe test and then use a third-party service to interpret the genetic results. ​​Nutrition Genome is one of the first programs I have found that gives a comprehensive summary of your 23andMe report with practical information that is presented in language that is easy to understand.

Simply complete the “Ancestry” portion of the 23andMe report and upload the results to Nutrition Genome for interpretation ($99). You’ll receive an in-depth analysis with your MTHFR status, as well as 8 targeted reports covering diet, energy, hormones, stress and cognitive performance, DNA protection, inflammation, detoxification, and athletic performance. Many patients love that it includes a breakdown of the best and worst foods for their genome with personalized grocery lists and recommended bloodwork.

What to Do if You Have MTHFR Mutations

While having a genetic mutation can create health challenges, remember that your genes are not your destiny! There are steps you can take to mitigate the impact on your health. This is the beauty of personalized medicine, it can be tailored to exactly what you need!

Here are a few steps I recommend for my patients with MTHFR mutations.

Supplement with Pre-Methylated B Vitamins
Pre-methylated B vitamins are in their most active and bioavailable forms, so they are most supportive of the methylation process. You can think of this as providing a shortcut for your body. Look for a product that contains the three most important vitamins for methylation: folate (activated B9), B6, and B12. 

Our favorite is RootFix MethylAid, which we recently reformulated for optimal performance. It features five key nutrients that are involved in homocysteine metabolism and allows for optimal bioavailability.

Avoid Folic Acid (Synthetic B Vitamins)
Patients with MTHFR mutations cannot adequately process folic acid (a synthetic, manmade version of folate). Supplementing with folic acid either via multivitamins or fortified and processed foods may be harmful, as high levels of folic acid can build up and attach to the receptors used to absorb folate.

Eat More Dark Leafy Greens
Leafy greens such as spinach and kale, along with broccoli, avocado, and asparagus are naturally high in folate to support methylation. Poultry, meat, and seafood are also high in B6 and B12 to support the methylation process.

Minimize Your Exposure to Toxins
Reducing your toxic burden will help ease the strain from inhibited methylation due to an MTHFR mutation. I like to start with the basics – food, air, and water. Choose organic, non-GMO meat and produce when possible. Avoid processed foods, which often contain toxins and are fortified with folic acid. Use an air filter and water filter (Berkey is our favorite!) in your home. From there you can slowly replace your body and household products, switching to cleaner soap, shampoo, makeup, cleaners, and detergents.

Work with a Functional Medicine Provider
Functional medicine takes a personalized approach to healthcare, so it is best suited for tailoring your wellness plan to your genetics. Whether you’re struggling with a chronic illness or just looking to optimize performance, a functional medicine practitioner can utilize specialty lab testing and an in-depth history to create a protocol perfectly matched to your needs.

To learn more about how we work with patients at GrassRoots, check out our Adaptation Program and book your free discovery call with our enrollment team.

About the Author: Dr. Seth Osgood is a Doctor of Nursing Practice, Board Certified Family Nurse Practitioner and Institute of Functional Medicine (IFM) Certified Practitioner. Dr. Osgood received his post-graduate training in Functional Medicine through the IFM and from working with Dr. Amy Myers. He has helped people from around the world improve their health utilizing a Functional Medicine approach.