Do I have a MTHFR Genetic Mutation?

January 1, 2016 Lisa Cantkier


Our ability to activate folic acid is more important than we realize!

Nutritional Genomics: the field blows me away!

This year, on new year’s day, I decided to write about a topic I’ve become very interested in. If this post helps one person, then my first new year’s resolution has been achieved! Why should more people know about the topic I am going to discuss? I have read that up to half the population may have a variation of this specific genetic mutation.

Science: I embrace it. I love it. I accept my inner science geek. Many evenings, my idea of “real” fun is staying up late to read and watch educational videos about topics such as quantum physics and fractal geometry.

When it comes to nutrition, among many topics, I am particularly fascinated by nutritional genomics; it is an emerging field and really quite fascinating—it is the scientific study of how our genetic variation results in specific nutritional requirements and how diet and nutrition modulate the expression of our genes.

I became very interested in the study of nutritional genomics after hearing an endless number of first-hand stories about how people have reversed their health conditions very simply (through vitamin supplementation), after discovering they have a common genetic mutation—the MTHFR mutation. I began to wonder if I myself have a variation of the mutation because I have experienced some of the associated health issues myself.

Healthcare and nutrition is about to change dramatically and will be revolutionized by what we learn from the study of our genes. The (amazing) Human Genome Project (which gave us the first map of human genes in 2003) and advances in ways individual genetic mutations are identified, are helping us understand the cause of numerous health conditions.

What is the MTHFR mutation?

“MTHFR” stands for methylenetetrahydrofolate reductase, which is an enzyme that activates folic acid (vitamin B9) by adding a methyl group to it. Activated folate (named 5MTHF) gives its methyl group to other nutrients and substances; this is a process called “methylation.” In short, the MTHFR gene instructs the body to make an enzyme necessary to convert vitamin B9 into a usable form. If you have a MTHFR genetic mutation, then your body doesn’t activate folic acid and your ability to methylate is lowered.

There are several variations of the MTHFR mutation and how it affects the body can be complicated. Although somewhat complex, it’s worth investigating the mutation if you have signs of it. Right now there are two main possible MTHFR mutations, C677T and A1298C; depending on whether you have either or both will determine the how the enzyme is affected. Also, methylated folate can affect other nutrients in our body as well, including how we process B12 and methionine.

Why is the B-vitamin folate so important?
Every cell in our body requires folate, so if it is not properly activated, we can be at risk of developing numerous health problems. The 5MTHF enzymes and other nutrients help make and process our neurotransmitters (messengers in our nervous system like epinephrine, norepinephrine, dopamine and serotonin), give us energy and help us to detoxify and eliminate toxic buildup. They even help make our immune cells and process our hormones.

What health problems can the MTHFR mutation cause?
The MTHFR mutation has been shown to be associated with anxiety, cervical dysplasia, cancers, depression and many other mental health conditions, diabetes, fatigue, forgetfulness, heart disease, high blood pressure, light-headedness, migraines, miscarriages and many other health conditions.

How can I find out if I have the MTHFR mutation?
There are blood tests and saliva tests available to test for the MTHFR mutation. You can order the test from your medical doctor or naturopath. If you live in the Greater Toronto Area, you can get the testing done with Dr. Mordy Levy, who is a doctor of functional medicine (he has a medical degree and is also a naturopath. I work with Dr. Levy at his medical clinic. I plan to get the testing done myself, soon. I am wondering if it will help explain many of the symptoms I’ve had over the years as a result of celiac disease. I have a hunch I have the mutation.

What is the treatment for the MTHFR mutation?
This is the best part of the story, because the treatment is so simple and it does not involve pharmaceutical drugs! If you find our you have the MTHFR mutation, then your health care provider will recommend a form of activated folate called “5MTHF” or methylfolate (not just the typical folic acid you’ve been taking). You can get methylfolate from uncooked leafy greens and from supplements which, again, your health care provider can recommend. There are also a variety of ways that you might respond to taking 5MTHF, so be sure to follow the advice of your professional.

I would love to hear your story. Have you discovered that you have the MTHFR mutation? If so, how has the discovery impacted your health and your life? Share your comments in the “comments” box, below.


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