Introducing the MTFHR Gene’s Role in Anxiety, Epilepsy, Autism, and More

Introducing the MTFHR Gene’s Role in Anxiety, Epilepsy, Autism, and More

As someone who has suffered from anxiety pretty much my whole life as well as being born with petit mal seizure disorder (either that, or developing it super early on), I always felt that my anxiety was due to how my brain was “wired” – as opposed to a vitamin/mineral deficiency, nor from just a passing phase or due to something entirely circumstantial (also obvious due to the consistency of it that I have experienced over the years). I also had thought that it was possibly linked to epilepsy because of other people I had met and research I had done that showed me a large number of people that had both. And, I’ve frequently experienced a “brain fog” and “out of it” feeling throughout my life which I have attributed to the epilepsy, especially when I was much younger when my epilepsy was much worse (throughout elementary/jr. high/high school). To top all of this, there are a number of people in my family that have suffered (or still do suffer) from either anxiety, depression, or both, so there was that too.

Not too long in the recent past, I also went through a phase of a few years of getting migraines regularly. I couldn’t tell what they were caused by. Oddly, after a few years of having them, they went away for the most part. The only thing I had changed was that I drank more water, adopted a healthier diet in general, and ate less wheat, dairy, and gluten. I can’t say whether the combination of all of these, one of these, or any of these at all had an effect on my migraines – although I am sure eating healthier and getting regular exercise in the very least helped.

MTHFR mutation and Its Link to Several Disorders and Diseases

So with all of this past history of mine, in my research I recently came across a potential genetic link in people with anxiety disorders – those people testing positive for what they call a “MTHFR” gene mutation. But certainly not only applicable to anxiety disorders, research is showing that this gene mutation may have an influence on epilepsy, migraines, depression, brain fog, fatigue, ADHD, and many other things – depending on which form of the genetic mutation you have. That’s why this research caught my attention. So many of these issues are issues that I’ve struggled with for as long as I can remember and that I’ve always suspected were linked, in some way or another. On top of that, it has shown to be extremely common for patients that have been tested to actually end up having a mutation on this gene.

MTHFR stands for methylenetetrahydrofolate reductase, which is an enzyme that activates folic acid by adding a methyl group to it. Basically, people with a mutation on this gene are unable to activate folic acid (which is actually synthetic) and process it into a type of folate that your body can use. The process that your body uses to convert folic acid to methylfolate is called “methylation.”

The specific name for activated folate (the form your body is able to use) is 5MTHF. This, along with other nutrients, allows your brain to create immune cells and process hormones, as well as process neurotransmitters such as serotonin, norepinephrine, epinephrine, and dopamine.

By the way, folate is required to make every cell in your body, so if your body is not able to activate it properly, there are naturally many problems that can be a result of this.

Sources of Folate

One of the best natural sources of folate is in uncooked spinach. However, many multivitamins and B-complex vitamins contain folic acid, instead of “folate” or “methylfolate”. So luckily if you do have one of the mutations of this gene, you can supplement with just folate itself (and eating more spinach!) – and look for vitamins that list folate instead of folic acid. However, it really is best to consult your primary care physician or naturopath, as supplementing with folate or 5MTHF is something that can cause noticeable side effects and in most cases you will want to start a small dose and work your way up. What you’ll need is also dependent on your specific body’s makeup and which type of mutation you actually have. Many nutrients and processes can/will be affected upon supplementing with methylfolate, so it’s especially essential in this case to be careful and not just take things carelessly without understanding how it may be actually affecting your body.

Testing for Mutations on the MTHFR Gene

One cost-effective way you can test for this is to order a DNA test from, and you will receive raw data from that test that you can then upload to an online tool such as Promethease or Genetic Genie that will help evaluate whether you have mutations on this gene. There are also doctors who will offer consultations to walk you through the data once you have it and help you interpret the information you receive. I don’t have any personal experience with doing it this way, but rather just found out online that it was a possibility and am passing on the info.

Doctors may also naturally end up testing for any mutations on this gene upon seeing from a lab test that your homocysteine levels came back high, as this can be one sign of having one of the many types of mutations of this gene. Which leads me to the next section…

MTHFR Mutation Types

While there are many types of mutation on this gene, the most well-studied (and what appear to be the most common) are the MTHFR gene mutations that are found at position C677T and/or position A1298C on the MTHFR gene. Having genetic mutations on one of the other will produce different side effects. If you have mutations on both positions of the gene, it is more serious and you will likely have side effects from both.

Depending on how many genes are affected will be classified as such:

  • Heterozygous Mutation: The most common and least severe of the mutations, this basically just means you have one normal gene and one mutated gene, either on the 677 or 1289 position. In either case, your MTHFR enzyme will only run at around 55–70% efficiency.
  • Homozygous Mutation: In this case you have two affected genes, and the MTHFR enzyme will only run at around 7–10% efficiency.
  • Compound Heterozygous Mutation: This is one mutation on the 677 position of the gene and one mutation of the 1298 gene. This is more serious as mentioned above as you will potentially have issues as a result of both of these types of mutations.

Links Between the MTHFR Gene Mutation and Autism

There has also been a great deal of research done at this point on autistic children and the MTHFR gene mutation due to the fact that folate and methylation play such an important role in neurologic development. The research has shown that there is a significantly higher frequency of mutations on the 677 position of the gene as compared to the control population. Increased folinic acid during pregnancy may help offset any risk for mutations on this gene for the baby (see this study to read more on the link between autism and the MTHFR gene).

Final Thoughts

There is so much more about this particular gene and its potential mutations than I could go into in this article. As with anything in the human body, it gets enormously complex and can be difficult to digest in one sitting. I’d encourage you to do some research on your own (and make sure they are from reputable sources); a few great links that I have pulled information from are below.

All in all, I’m grateful that we have found out what we have about this gene and that it may possibly help me to understand my own conditions. We are beginning to find out more and more about this through the science of genetics that will allow us to understand our own individual genetic profiles and be able to find a relevant treatment for all of the symptoms we might feel but haven’t been able to yet quite find the right diagnosis for (or a diagnosis at all). I am personally excited to continue to find out more about how our genes have a play in what we feel and experience, and how we might be able to successfully find treatment for symptoms, disorders, and diseases that are keeping us from fully enjoying our everyday lives.


Research Sources:

1) Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.
2) Folic Acid and MTHFR – Could You Have a Genetic Mutation?


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