MTHFR genetic testing DNA paleo mutation methyl-tetrahydrofolate reductase heterozygous 1298C 677T weight loss-min

MTHFR – say what?

If you've been following my series on investigating my inability to lose weight, you’ll have read about my blood test results last week. (Catch up on the other posts in the series here, here , here , here and here). Well, the other component to those test results was the genetic results…

I knew these results were fine too, as I’d scanned through them when they arrived in the post and didn't see any words like “fault” or “mutation”. Wrong again. That innocuous word “heterozygous” in the results column, does not mean “nothing to see here, move on!”

MTHFR genetic testing DNA paleo mutation methyl-tetrahydrofolate reductase heterozygous 1298C 677T weight loss-min

Introducing MTHFR…

One of the gene sequences they tested for was the gene MTHFR (methyl-tetrahydrofolate reductase). Yep, I'd never heard of it either. There are more than 50 known MTHFR variants, and they seem to only test for a few of these (with 677T and 1298C being the most common). It turns out I am heterozygous for MTHFR 1298C. Heterozygous means I have one affected gene and one normal gene, whereas homozygous would mean both genes are affected. Being heterozygous, it’s quite possible I could have no issues whatsoever, but having looked through the list of symptoms and seeing pulmonary embolisms feature, it’s clear I am affected by this mutation.

Having had two unexplained “random” pulmonary embolisms and none of the risk factors (as I wrote about recently) I am shocked and upset that this was not uncovered before. I had the genetic tests before and didn't see them myself, but was told they were fine. It’s clear to me now that they would only have told me if I has a homozygous result!

The MTHFR enzyme works in a process called the methylation pathway, and basically seems to explain why my B12 (and therefore Iron) are so low, as a mutation means B vitamins aren't processed properly. I'm no scientist, so I highly recommend reading this excellent MTHFR website. The treatment is to take B12 supplements, but in the active form of Methyl B12, and I've also started taking another supplement called “Methyl-Guard Plus” that works with the B12. Luckily iherb sell both, so I was able to get them and start taking them quickly.

Interestingly fortified folic acid or folate foods have a further detrimental effect on this pathway and are to be strictly avoided as you’re not able to process they folic acid. The folic acid then has no where to go, so causes inflammation and increased homocysteine levels. I can’t help wondering how many expectant mothers diligently taking folic acid also have MTHFR mutations and are doing a lot more damage than good with these well intended supplements…

In a few weeks time I'm going to have a repeat of all of the tests (and a few extra) to see how the treatment and supplements have been working. Depending on the results I'm also going to look into having further testing into some of the other 50 known MTHFR variants. After my Pulmonary Embolism experience I want to know as much as I possibly can about my health and genetics, to avoid that ever happening again.

How is this related to my weight?

On the surface, it’s not completely clear – there is just so much going on. But given how many things seem to be linked, the doctor and naturopath seemed to think it likely that this is all related to my weight. If things aren't working properly, it makes sense that my bodies process for fat loss is not efficient either. And now that I have several biochemical reasons as to why I am so frequently tired – perhaps this is also related to my low metabolism? A low metabolism must have a significant bearing on weight loss…
Have you had genetic testing? What did you find out – and what have you done about it since finding out?

Paleo Cookbooks cavemanfeast paleo-recipe-book
21 replies
  1. Roy A. Ackerman, PhD, EA @
    Roy A. Ackerman, PhD, EA @ says:

    Great piece and explanation.
    This is what I will be discussing Friday on my blog (part of my series on big pharma)- where we spend time developing drugs and therapies based upon a single disease or condition, when the average patient has multiple problems and takes multiple drugs that may interfere with this new one being tested.

    • Suz
      Suz says:

      Thanks Roy, fantastic. I will look forward to reading that post. Eager to learn as much as I can about all of this!

  2. Alison Golden
    Alison Golden says:

    Hi Suz:

    I am homozygous for the C677T variant of MTHFR. Everyone who has a health issue should get tested for it. 40% of the population are hetero, like you. 5-10% depending on who you read are homo. The problem with it and why it is so important is that if your methylation cycles is compromised you have a hard time converting the good stuff into a useable form, and have a very hard time getting rid of the bad stuff that makes its way into the body, including medications. The stage is then set up for imbalance and secondary problems start – inflammation, infections, congested liver, leaky gut and that leads to thyroid issues, cholesterol, etc., etc. I have spent 8 years working on getting my body back in order. I’m doing better than I ever have, and I’m 50 now. I’m a supplement fiend, paleo advocate, and believe in taking responsibility for ones own health.

    I don’t know that I’d get all the other variants tested for. Interesting but not sure it would change anything. I’d focus on supporting the methylation pathways. I follow the simplified protocol developed by Rich Van Konynenburg and take additional vitamins and minerals to support my main foci – thyroid, leaky gut, liver. I spend a lot on them but it is worth it because I’m compromised in what I can get just from my food.

  3. Billie
    Billie says:

    Interesting, great you are seeking your own answers.

    The drug companies would be in panic if we all went to such trouble. So many profits would be lost, this is one problem we all seem to want the quick fix for, rather than finding the route cause of our health issues.

  4. Lars T
    Lars T says:

    Amazing all the work you’re putting into this.

    I’d like to get my genes sequenced but I’m not sure how to in the US these days, after the FDA shut down’s health related genetic testing.
    I’ll have to look into this myself to see how I can do this.

  5. Deb
    Deb says:

    Yup me too – Lars I’d suggest a naturopath in your area. I’m hetero for both c677t and 1298c so I’ve been trying to learn as much as I can too. It’s difficult due to the fact sooooo many doctors are totally unaware of what this even is, so we really need to arm ourselves throughly. For me there’s the weightloss, Fibro , child with Autism, total pharmaceutical allergies that I never had before, constant major injuries even with the tiniest of accidents, and autoimmune inflamation issues. My naturopath says many/most of these really are connected.

  6. Stephanie
    Stephanie says:

    I found out I had MTHFR while pregnant. I was put on Lovenox to prevent blood clots and my OBGYN mistakenly increased my folic acid because her understanding was that because of my inability to process it I must need more.
    I kept the dose high all while breastfeeding and got sicker and sicker and was eventually hospitalized for a host of other issues that was caused by it.
    No one connected the dots. It wasn’t ubtil 2 years later when reading on how I could fix my thyroid with paleo that I stumbled upon some information in MTHFR and realized what had happened.
    Paleo changed my life and helped me ditch the 12 medications I had been prescribed and get back to a place where I could work again, regulate my thyroid and drop 35lbs.

  7. Melissa
    Melissa says:

    I see it’s been a few months since you posted this and was wondering how your doing with treatment,weightloss in regards to MTHFR..I suspect my son and I both have this and will be seeing the Dr this week. I’ve been low carb high fat/paleo since jan 14 and I’m maintaining my weight but not losing like I’d like. Anyway, hoping for an update. Many thanks, Melissa

  8. Kathryn
    Kathryn says:

    Hi we call this ‘mother’. I don’t know much about it. But what I do know is that if is highly linked to infertility as is high natural killer cells,hypothyroidism and immune issues such as Antiphospholipid syndrome. If you are trying to have a baby please get all of the above tested, n
    Best, Kathryn.

  9. Carla
    Carla says:

    HI there,
    Just wondering how you’re going with your weight loss efforts in light of the MTHFR diagnosis. I’m not paleo, as I still eat dairy, but when I went LCHF about 6 months ago, the weight started pilling on steadily and I’m now 10kg heavier than I was 6 months ago. I keep reading all these stories of people losing so much weight eating healthy fats and never feeling hungry. Makes me so frustrated! I am heterozygous for A1298C, have severe adrenal fatigue and hypothyroid symptoms (apparently from my weak adrenals, not the thyroid itself). I’m now seeing a holistic GP and am on adrenal supplements among a host of other supps. Am waiting patiently to heal and finally start losing some of this weight (I read somewhere that MTHFR can stop you properly processing fats, proteins & carbs – so that sux).
    Anyway, just wondered if you might be writing a follow up – hopefully with some good news.

  10. Kati
    Kati says:

    I just found out that I’m heterozygous for MTHFR C677T and A1298C. And I have factor V Leiden deficiency and prothrombin gene mutation. I’ve always been a little heavier than I want, except when eating unhealthfully/cutting calories too much. I’m going to start a compound from Methylpro soon, so I’m interested in hearing about anyone who has noticed normalization in general through supplementation.

    • Suz
      Suz says:

      Thanks for commenting Kati. It’s so good you’ve found out – will be interested in hearing how the supplementation goes for you.

      • Kati
        Kati says:

        I could only take the methyl pro for a couple days, before stopping, due to the sensitivity from too much methylfolate. I wanted to ask you though, have you found any conclusive evidence if methyl b12 can cause clots or not? I am having a fun time trying to figure out where my right leg pain is coming from. I went to the ER and had my leg scanned via ultrasound, coming back negative for dvt (thankfully). But I had just started the methyl b12 as well. Thanks for any insights.

  11. Tracey
    Tracey says:

    I recently started eating Paleo after being diagnosed with a MTHFR mutation ~ I have hetero C677T. I was prescribed twice weekly injections of 5-MTHF & MIC + B12 ~ my question is ~ is Paleo a good diet for the gene mutation I have and are there supplements I can take other than the injections? Thank you for any answers you can provide.

  12. Kelli
    Kelli says:

    Just wanted to let you guys know about another place you can get genetic testing. I went through “genes for good” to get my raw genetic data… it was FREE… then when I got my results I put it through the website “promethease” for only $7 to get the raw genetic data interpreted, and that’s how I found out that I am homozygous for MTHFR… amongst other things. All interesting stuff.

    I already knew I was deficient in B12 and suspected MTHFR but didn’t know for sure… and didn’t know if I was hetero or homozygous. So the genetic results were very helpful to me for multiple reasons. I am also on a wait-list to see a genetics doctor anyway because of other issues I have going on. My doctor suspects Ehlers Danlos (Which I do have genes for) and mitochondrial disease. It will be interesting when I finally do get in for an appointment but I have already been waiting for over a year. Now that I know about the MTHFR and have been reading I have started a L-methylfolate supplement and am switching from Cyano B12 to Methyl B12.


Leave a Reply

Want to join the discussion?
Feel free to contribute!

Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.