MTHFR: My Genetic Mutations, Folic Acid, and Medical Mysteries

I recently sent away for the 23andMe genetic testing kit (<– that’s my personal referral link) so that I could learn more about my health and my ancestry. I’m still getting results returned to me as they get the reports completed. The ancestry results takes a lot longer than the health results.

I learned a lot of interesting things based on the health reports generated for me. I learned that I have a 1 in 3 chance of age-related macular degeneration, Type II diabetes, and psoriasis. Diabetes runs rampant in my family, so this was not a surprise. We have a lot of skin problems, too, so psoriasis was not something I expected to see in my report, but it makes sense. Macular degeneration was not even on my radar, though. The scary thing about macular degeneration is that the damage is irreversible once it happens, so I’m very glad that I’d already started taking an Omega-3 supplement to hopefully ward off some of the potential problems with my vision as I get older. I also have a slightly increased risk of rheumatoid arthritis (RA) – which doesn’t surprise me at all. After all, one of my doctors did tell me I should treat my body as if I have RA, even though I don’t test positive for it.

There was good news, too. I have very minimal risk of developing Alzheimer’s disease or Parkinson’s disease, much lower than average risk. I do not have any of the BRCA1 mutations that 23andMe tests for, which means I don’t have to make any scary preventative decisions regarding breast cancer. That doesn’t mean I absolutely won’t get breast cancer, but I am not genetically predisposed to it according to the tools available to me. There are a number of heart problems for which I’m at a decreased risk, as well – like coronary heart disease and atrial fibrillation.

So What’s This About MTHFR?

[May 2024: While the facts I share in this post remain the same, I found that tailoring my nutritional supplements for the MTHFR mutation was not helpful for me.]

Something that did not appear on one of my 23andMe-generated reports was my MTHFR mutation. I have to try not to giggle whenever I see those letters, because it reads to me as an abbreviation for a rather obscene phrase, and this is actually quite a serious issue. Once 23andMe runs your saliva sample, they give you access to your raw genetic data. I had posted on the forums there to ask if anyone know about genetic markers for chronic fatigue syndrome (CFS). I received a private message that suggested I look into MTHFR. Exploring the forums a little more provided me with a link to Genetic Genie, a site that analyzes the raw data from your 23andMe test and lets you know if you have any genetic mutations related to methylation.

Methylation is all new to me. Maybe we learned about it in high school biology, but I don’t remember anything about it. I found plenty of technical scientific explanations that didn’t make much sense to me before finally happening upon this one:

Methlylation is what occurs when your body takes one substance and turns it into another, so it is detoxified and can be excreted from the body. Methylation is a process that occurs one billion times per second, it takes place in the liver during phase two detoxification.  A methyl group is a carbon atom with three hydrogen atoms attached to it.  Methylation occurs when SAMe (S-adenosine methionine) donates a methyl group, which is then attached to the molecule that is being detoxified.  SAMe then becomes homocysteine.  Vitamin B6, B12, and folic acid are necessary to reduce homocysteine and keep the methylation process occurring.

Okay. So people like me who have a homozygous MTHFR A1298C mutation have strongly inefficient methylation going on in their bodies. From how I understand it, my body cannot break down folic acid the way it’s supposed to. All of those prenatal vitamins I took, all of the foods I eat every day that are fortified with folic acid, they are actually making my body more toxic. Folic acid is an artificially created form of folate that people like me cannot metabolize efficiently, so we can be deficient in folate even if blood tests say our folate levels are high, because the blood tests will count all of that folic acid floating around that we are not able to absorb. Without adequate folate, we cannot properly absorb the nutrients we eat or detoxify the heavy metals (like aluminum) and ammonia, etc from our bodies. This could be the explanation for why I’ve always been anemic, even when taking iron supplements.

As it turns out, MTHFR mutations can be responsible for:

• muscle pain
• insomnia
• chronic fatigue syndrome
• memory loss
• brain fog
• muscle tenderness
• autism
• decreased serotonin
• decreased norepinephrine
• depression

These are all things I experience. (And because my mood disorders are related to both serotonin and norepinephrine, it’s no wonder that an SNRI like Effexor XR was what I needed to make a difference.)

How to Cope with Your MTHFR Mutation

This is the part where I say I’m not a doctor, and this does not constitute medical advice. But I’m doing my own research into the information that’s out there about dealing with an MTHFR mutation, and while you can’t change your DNA, it seems there are some things we can do to help our bodies make up for our genetic issues with the methylation cycle.

I’m going to be looking into finding a good methylfolate supplement. Unlike folic acid, this is something I should be able to metabolize to get my folate levels where they need to be. I’m told the ingredient labels may list 5-MTHF, Metafolin, or Extrafolate-S to ensure I’m getting the right type. I’ll also be looking for a B12 supplement to benefit the methylation process. Because I am already on several prescription medications and other supplements, I’m going to talk to my doctor first to make sure there won’t be any conflicts. I also have to take a serious look at the foods I buy and consume that are fortified with folic acid. I’ve been trying to buy the more nutritious (read: fortified) versions of the packaged foods we eat for years, and now I learn that I could have been compounding my problems by forcing my body to waste its resources trying to break down folic acid instead of doing other helpful things.

Oh, and as it turns out, Epsom salt baths are good for people with the MTHFR mutation because we can use the magnesium. I have a different genetic mutation (CBS A360A) that warns me against Epsom salt baths because of the sulfate, but my personal experience shows more benefit than harm from my daily soaks.

Of course, I know that eating fewer processed foods would benefit me all around. Then I’d get high-quality folate naturally, without any of the nasty folic acid I can’t handle. It’s not easy, though. It’s not just my autism that makes me a picky eater, 23andMe also showed me that I am genetically predisposed to having a more sensitive palate. I’ve got homozygous bitter taste perception, which is why so many foods can make me gag. (Lucky me!) I am classified as a genetic supertaster, homozygous for three related SNPs: Rs713598, Rs1726866, and Rs10246939. I actually can’t wait to tell my parents about this. I’m grateful that my husband is such a good cook, because he can make a great meal with fresh ingredients that are far healthier than prepackaged meals.

Update: The Past Few Weeks of Overmethylation Hell

Read my Big Fat Medical Update for more details.