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

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.

Genetics

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?

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.

MTHFR Mutations

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.

I found a video that helps explain it, too:

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 norepinepherine
  • depression

These are all things I experience. (And because my mood disorders are related to both serotonin and norepinepherine, 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 that 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 Asperger’s 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: Rs713598Rs1726866, 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.

UpdateThe Past Few Weeks of Overmethylation Hell

Christina Gleason (859 Posts)

That’s me: Christina Gleason. I’m a professional copywriter, editor, and blogger. My company is called Phenomenal Content. (Hire me!) I’m a relatively high-functioning Aspie who also lives with Chronic Fatigue Syndrome (CFS), depression, anxiety, and chronic pain. I am not ashamed to admit that I am in the care of a psychiatrist, who assures me that people in therapy are often better adjusted than “normal” people who are not, because at least we know what our issues are and are working on them. I’m a geek for grammar, fantasy, and select types of gaming, including World of Warcraft and Plants vs Zombies 2. I hate vegetables. I have an intense phone phobia, so I’ll happily conduct business over email or IM instead. I have started writing no fewer than five novels, and I hope to finish one of them...eventually.

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{ 9 comments… add one }

  • Hanni November 28, 2013, 1:01 pm

    This is so interesting – I just received the test and am anxious to send it out. So curious to see what it says!

  • Liz April 17, 2014, 6:45 pm

    Im also homozygous 1298. Have you found a regimen that works for you so far? Have you found the methylfolate to be helpful?

    • Christina Gleason April 17, 2014, 10:48 pm

      I do think the methylfolate has been helpful. I’m starting to consider raising my dosage though, because although I’m doing markedly better than I was before I started taking all of my various supplements, I think I could be doing much better. I don’t know if more folate is the answer, or if there are other deficiencies and such I need to deal with. I’m currently taking folate, B-12, D-3, and iron every day.

  • Suz May 7, 2014, 8:16 pm

    How interesting. I’ve just found out I have a MTHFR defect too – which explains a lot of the “random” things that have happened to me health-wise. I’m now supplementing with Methyl-B12 and Methylfolate, but I think it’s too early to say what impact they’ve had. How are you getting on with the supplements?

  • Lynn May 22, 2014, 12:02 pm

    What a great site!!! I have been trying to figure out MTHFR.
    I am heterozgous for C677t and A1298c. I did the 23andme, but find it so hard to understand.
    I tried 5-Mthf (1mg), got a detox reaction. I also take Methylcobalamin 3mr/0.5ml shots,every 3 days.
    I have Lyme,Mds,Ebv,Hypogly,HHcs and it goes on.
    Just trying to get my brain back. Brain fog is awful.
    Thanks again.
    P.S. 1 child birth,A ok.

  • Fiona May 28, 2014, 9:39 am

    Hi guys I am also comp hero. I detox really badly on 5mthf although my protocol has helped me enormously. I’ve found some relief with msm but I end up with migraines fatigue and visual interruptions. I have got to the point where I carry niacin with me everywhere. Have started improving my diet and doing fruit smoothies with flax Chia and seeds. Well anyway I’m on a journey of self improvement through necessity

  • Susan June 24, 2014, 8:22 pm

    Hi Christina,
    I happened on your MTHFR post as I was doing some research. Have you ever looked into a Lyme Disease test? You say you have Chronic Fatigue Syndrome (CFS), depression, anxiety, and chronic pain. Lyme can cause all that and more. I have it as well. If you’re interested in which test to get- because the brand of test does matter- email me.

    • Christina Gleason June 25, 2014, 2:14 pm

      Hi Susan,

      I’ve been tested for Lyme on several occasions over the course of many years, and they always came back negative.

  • Joely Cruz September 25, 2014, 10:55 am

    i also have 2 defects …has caused many unexplained symptoms throughout my life…trying to find answers everyday.

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