Doctor Doni

Folic Acid and MTHFR – Could You Have a Genetic Mutation?


Dr. Doni Wilson, author of The Stress Remedy, explains how health issues such as anxiety, migraines and high blood pressure could be caused by a genetic mutation.

I hear from so many patients who have fatigue, irritability, brain fog, anxiety, sleep issues, and/or aches and pains—and often there is no apparent cause. Doctors frequently say, “There’s nothing wrong” because standard blood results all fall within basically “normal” ranges. Even when a diagnosis like fibromyalgia, chronic fatigue, and/or autoimmunity is given, it is not often suggested that an undiagnosed and treatable genetic issue could be underlying the entire problem.

We usually think of genetic disorders as conditions that are obvious and require lifelong adaptations, but what about the more minor genetic differences that influence not just the way we look, but the health conditions to which we are predisposed?

Thanks to the Human Genome Project (which completed the first map of human genes in 2003) and advances in ways to identify individual genetic mutations, it is beginning to be possible to know what is happening in your body before health conditions develop. This means that we can do something to prevent these conditions before they happen.

It is absolutely certain that exposure to stress (both emotional and physical stress—including diet and toxins) affects the way our genes are expressed, so managing stress is imperative to our wellness. However, we can also now do relatively inexpensive tests to determine our need for nutrients that can fill in where our genes are leaving us susceptible.

What is MTHFR?

One example, and often the first mutation tested, is MTHFR. MTHFR stands for methylenetetrahydrofolate reductase—an enzyme that activates folic acid (turns it into folate) by adding a methyl group to it. That’s right, plain old folic acid—the same folic acid found in many multivitamins and in fortified foods.

Activated folate (named 5MTHF) goes on to give its methyl group to other nutrients and substances—a process called “methylation.” Read all about methylation in this article. Folate is required for the creation of every cell in your body, so if it is not activated properly, you can imagine what a significant issue it would be. 5MTHF, along with several other nutrients, is also used to create and process neurotransmitters (messengers in the nervous system like serotonin, epinephrine, norepinephrine, and dopamine); create immune cells and process hormones (such as estrogen); as well as to produce energy and detoxify chemicals.

Stress, in all its forms, inhibits this “methylation,” the transfer of methyl from 5MTHF to other substances. So when you are under stress, it is especially important to provide the nutrients necessary for these processes.

To clarify in more detail, the liver is a major processing system, involving countless enzyme pathways, including methylation, which turn one nutrient into another and toxins into non-toxins, preparing them all to be used and/or expelled by the body. When you drink alcohol, it is your livers job to process it using methylation, but if your nutrients are depleted or you are stressed, your liver will not be able to complete the process effectively, leading to symptoms associated with a hangover.

If in addition you have a genetic mutation of MTHFR, which lowers your ability to methylate–and it turns out that many of us (estimated at 45%) do have at least one form of that mutation—then your body is going to have an even harder time detoxifying alcohol and other toxins.

In fact, the degree to which your body doesn’t activate folic acid to methylfolate influences your susceptibility to chemical sensitivities and allergic responses, but also blood clots, strokes, anxiety, depression, high blood pressure, certain cancers, and more. Even thyroid issues, headaches, and insomnia have been associated with having an MTHFR mutation.

And the simple treatment is to take folate in an activated form orally. So you see it would be absolutely worth knowing if you need it, because then you can address it immediately and hopefully reduce your risk of developing these conditions.

In fact, without knowing your genetics, and knowing that most of us are under stress and exposed to toxins, it is generally a good idea to take activated folate instead of folic acid, so check your B complex and multivitamin to make sure it says “folate” or “methylfolate” instead of “folic acid.” Folic acid is also often added to processed foods, so check the labels on packages and avoid them if they say “folic acid.”

The best source of folate in food, by the way, is UNCOOKED greens (spinach).  But for those of you with ongoing health concerns, finding out if you need even more methylfolate could make a life-changing difference in your health.

How can I be tested to find out if I have an MTHFR mutation?

Blood testing for MTHFR mutations are available at standard labs, plus new tests have become available that allow us to check for MTHFR mutations in saliva. Read all about how to test for genetic mutations in this article.

You could ask your doctor to test for an MTHFR mutation in your next set of bloodwork, but keep in mind that insurance does not always cover this test (and it could be expensive).

Sometimes the best option, especially if you’d like to find out about all of your genetic mutations and related nutrient needs, is to order a saliva test kit yourself online for $99 from They will provide your “raw data” which you can then process through other online programs that will list your genetic mutations.

Once you have your results, I’m happy to walk through them with you (in-person or by phone/Skype), explain what they mean and how to address them as well as your health issues. The best way to do that is to schedule a Comprehensive Health Breakthrough Session with me. Or if you prefer, we can meet first, then I can help you with the genetic testing and go from there. During your initial appointment we can also discuss whether it makes sense for you to choose my MTHFR and Genetic Profiling Solutions Package, which includes follow up consultations and tests that help us understand how your mutations may be influencing your health, as well as discounts on supplements.

How other genetic mutations might be affecting you

Before you start diving in to find out whether you have a MTHFR mutation, it is important to know that there are many variations of this mutation and numerous complexities to how this mutation affects other processes in the body. There are also a variety of ways that you may respond to taking 5MTHF.

There are actually two main possible MTHFR mutations, C677T and A1298C, and depending on whether you have either or both, on one or both strands of your DNA, will determine the extent to which the enzyme is affected.

Then, to make it more complex, there are cofactor nutrients involved in methylation, including B6, B12 and magnesium, so it is not just about folate.

Plus, if your body is not changing folic acid into folate well, it could be disrupting other nutrients and processes, including the production of neurotransmitters, detoxification of estrogen, and production of glutathione (an important anti-oxidant). This can result in anxiousness, fatigue, brain fog, as well as increased risk of cancers, heart disease, Alzheimer’s disease, and diabetes. But it also means we need to proceed carefully when we start giving methylfolate, because all of these processes will be affected.

Furthermore, there are other possible mutations that can affect and be affected by MTHFR. So it really helps to have a practitioner guide you through the information.

What can I do if I have an MTHFR mutation?

  1. The first thing to know is that your body requires a form of activated folate called 5MTHF or methylfolate (not folic acid). You can get methylfolate from uncooked leafy greens and from supplements. Supplement companies have started making products containing 5MTHF, so you can access them without a prescription (although prescription forms are also available). I sell these supplements in my office at a reasonable price. To find out more about such products, check out these examples:
    PureGenomics Multivitamin
    5MTHF 1 mg and 5 mg
    MethylGuard Plus
  2. I strongly encourage you to go slowly and notice how your body responds. The dosing for 5MTHF is highly individualized* and starts with the lowest possible dose (200 mcg to 1 mg) in order to allow your body to adjust to a new amount of this nutrient. I hardly ever give 5MTHF alone – it is always with supportive nutrients so the whole methylation cycle is supported. It is important to monitor for negative responses (such as anxiety and feeling jittery or nauseous) which indicate that there may be another mutation affecting methylation. Too much methylfolate is NOT a good thing, so decrease your dose if you don’t feel well.
  3. The next thing to know is that you need to support the other steps involved in the methylation cycle, as well as to eliminate the factors that are slowly down your methylation cycle. You can learn how to do in my article called 8 Steps to Support Your Methylation Cycle here.
  4. I can’t emphasize enough how important it is to work with a practitioner with training in how to support MTHFR mutations. You can find out about having a consultation with me in-person or by phone/Skype under Make an Appointment above.
  5. Your practitioner may recommend other tests to help us understand how your MTHFR mutation is affecting your health, such as testing for food sensitivities, salivary cortisol levels, neurotransmitter levels, organic acids, and methylation metabolites. That’s why I created the MTHFR and Genetic Profiling Solutions Package. It includes all of these tests, as well as an initial appointment and follow up appointments – so you’ll have everything you need to get your MTHFR mutation(s) managed with support.

Closing Thoughts

In the past, genetics used to feel like a ‘done deal.’ We were stuck with the genes we received at birth and couldn’t really do much about them. But now, through breakthroughs in genetic science, we are learning more and more about our specific needs based upon our genetic profile. This means we can influence our health in the future based on the nutritional choices we make now.

By combining this information with what we know about restoring an optimal response to stress, you can be preventing cancer, Alzheimer’s disease, autoimmune conditions, and more. I created the ‘Stress Remedy Master Plan’ that you can read about in my book The Stress Remedy to guide you through the process.

I’ve created a new series to dive deeper into the issues around the most common genetic mutations, including how to test for and treat them. You can find it here: Dr. Doni’s Series on How Genetic Mutations Affect Your Health. Here’s the full table of contents for the 10-part series:

I’d love to hear your thoughts about genetic testing. Is it scary? Is it hopeful? What does it hold for our future?

Dr. Doni
3rd April 2014

*Please keep in mind that any and all supplements—nutrients, herbs, enzymes, or other—should be used with caution. My recommendation is that you seek the care of a naturopathic doctor (with a doctorate degree from a federally-accredited program) and that you have a primary care physician or practitioner whom you can contact to help you with individual dosing and protocols. If you ever experience negative symptoms after taking a product, stop taking it immediately and contact your doctor right away.

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