Sunday, August 7, 2016

That Darn MTHFR Gene and How It Affects Migraine

Having dealt with chronic migraine the past 14 years, I thought I had literally tried everything there was to treat migraine, unsuccessfully. After struggling with a disease for so many years, it is natural to think we have tried everything. I had failed so many migraine treatments, including botox, I felt like I was completely out of options. Then in 2015 I had some genetic and food sensitivity testing done. 

I have been told over the years my migraines were hereditary and there was just nothing I could do about it. Bad genes, they always said. I do have some bad genes. I inherited some really crappy genes, combined together, making for the perfect storm of poor health. I had heard of the MTHFR gene and started doing some of my own research. I was shocked at how many diseases have been linked to the MTHFR gene. When I got my genetic tests back, I wasn't terribly surprised to learn I had one copy of the MTHFR A1298C and one copy of the MTHFR C677T.

I am not all that special, as this genetic mutation is quite common. Studies have shown, 1 in 2 people, roughly 50% of the population, is a carrier for the MTHFR genetic mutation. Migraine is only a drop in the bucket of conditions the MTHFR gene affects. MTHFR has been linked to so many different health problems and diseases, it is surprising modern medicine isn't testing everyone for this gene. Fortunately, many people who have the gene may never have symptoms of these diseases. But then there are those like me who have several conditions related to MTHFR. Some of these chronic illnesses and diseases include:
  • Autism
  • Fibromyalgia
  • Chronic Fatigue Syndrome
  • Irritable Bowel Syndrome
  • Coronary Artery Disease
  • Parkinson's
  • Miscarriage
  • Schizophrenia
  • Depression
  • Anxiety
  • Addictions
  • Stroke
  • Bipolar Disorder
  • Blood clots
  • Crohn's 
  • Epilepsy
  • Type 1 Diabetes
  • Migraine with aura
  • Alzheimer's
  • Certain Cancers 
  • Rheumatoid Arthritis
And this is in no way a comprehensive list. Dr. Ben Lynch, author of the website, has even gone so far as to claim, "MTHFR is related, directly or indirectly, to basically all human symptoms, conditions, syndromes, diseases and signs."  

What is the MTHFR Gene Mutation?

Never heard of it before? Let me try to explain in simple terms. MTHFR is the abbreviation for a gene called, methylenetetrahydrofolate reductase. MTHFR tells the body to produce an enzyme involved in converting specific B-Vitamins, namely methylfolate, into a form the body can use. Our bodies then take this converted form and turn it into specific proteins and vital compounds. Some of these include the neurotransmitters serotonin, norepinephrine, and dopamine. (2) Having the MTHFR gene with mutations such as C677T and/or A1298C, leads to a reduction in the function of this enzyme, and makes it difficult for the body to convert methylfolate into a form we can use,
specifically folic acid. Folic acid is often added generically to foods (take a look at your kid's cereal box) and is found generically in prenatal vitamins and other supplements. This is not necessarily a problem for people who do not have the MTHFR gene mutation. BUT, if you are a carrier of this gene and have two copies of C677T, or one copy of C677T and a copy of A1298C, you are at a greater risk of developing the diseases and conditions associated with this gene because your body is unable to process folate in the way it is supposed to.(1) I like how Dr. Ben Lynch broke it down on his website. MTHFR function is reduced typically in this way:

  • MTHFR A1298C heterozygous (1 copy): 20% reduction in function
  • MTHFR A1298C homozygous (2 copies): 40% reduction in function
  • MTHFR C677T heterozygous (1 copy): 30-40% reduction in function
  • MTHFR C677T homozygous (2 copies) 60-80% reduction in function
  • MTHFR A1298C heterozygous and C677T heterozygous (one copy of each): 70% reduction in function. (3)
MTHFR and How It Relates to Migraine
I would love to expound on how MTHFR correlates to Hypothyroidism and the slew of other health conditions,because it is fascinating. But, for the purpose of this blog I am going to hone in on migraine. I love how the human body is complex and intricate, all parts working together to make sure things run smoothly. It is simply amazing to me how one seemingly small thing, can throw our bodies completely off.

In relation to migraine, MTHFR can lead to elevated homocysteine levels, which causes a problem for nerves and blood vessels, contributing to migraines. It can also produce "neurotoxic effects" and "hyperexcitability" in the brain. Studies have found reducing homocysteine levels through the proper supplementation of B-vitamins has helped to reduce migraine. Interestingly, another study found the different mutations on the MTHFR gene correlated to different associated symptoms of migraine. For example, C677T has been associated with physical activity and stress as a major migraine trigger, while the A1298C was found associated in those who suffered from migraine with aura. (1)

So what can we do? First if you do suffer from migraines, it is definitely worth getting tested for the MTHFR gene. I had lots of DNA testing done and it was a simple cheek swab for me.  MTHFR can also be tested for with a simple blood test. Oddly, I found out recently when I was reviewing some old medical records, I was tested for the MTHFR C677T gene back in 2008 when I was living in Amman, Jordan, after suffering two miscarriages. My doctor gave me the results, gave me a prescription for what I assume was a type of folic acid, but never told me anything else about it. Stateside, I have had two different OB's whom I showed this testing to and neither of them knew what to do with it. This is often the case as many doctors are uncomfortable with genetics and don't know how to treat MTHFR, or don't find it necessary. It's like my pediatrician said when I questioned her about having my kids tested for some of these genes, she was more than willing to run the tests, but needed to know what to do with the results. There are many doctors in the states, both conventional and functional, that have a good understanding of the MTHFR gene and know what to do with it.

Individuals who carry these genes need to be taking daily supplementation of methylated forms of Folate (5-MTHF) and Vitamin B-12 (methylcobalamin).  I take the special forms of these vitamins through Douglas Labs. Many over the counter supplements contain a synthetic form of folic acid, which will actually make things worse as the body cannot process it. Therefore, it is necessary to find the methylated forms with a reputable company. In the case of migraine, it is possible these two forms of methylated supplementation could work together to raise serotonin levels and potentially improve migraine.  And remember, synthetic forms of folic acid is often added to our food, so read labels and avoid. As always, it is better to eat fresh foods that naturally contain folates such as leafy greens.

I have only been on my nutraceuticals for a few months and I have made a lot of changes in my diet and life. Even in this short time, I have seen major progress in not only reduction of my migraine, but also improvement in my IBS, fatigue and Hashimoto's.


1. "Effects of MTHFR Gene Polymorphism on the Clinical and Electrophysiological Characteristics of Migraine," BMC Neurology 2013. Online.
2.  "Studies on the Pathophysiological and Genetic Basis of Migraine," U.S. National Library of Medicine National Institutes of Health. Current Genomics, published online 2013.
3. Lynch, Dr. Ben, "Is MTHFR Related to X Condition? X Disease? X Symptom? X Syndrome?" Online. June 10, 2015

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