Ok, so I have a MTHFR C677T homozygous mutation

UPDATE, October 10, 2018
In the last months, I got contacted by a pretty interesting number of women who discovered to have this mutation and only found a few sources of information online. And I was one of the few. This made me partially sad because I’d hope to find people talking about MTHFR more often, but also made me feel responsible for all of you so I thought I should give you some more advice when I can. I’ll try to keep this post updated and answer to all your questions asap!

Useful links and readings:

  • Find an MTHFR informed doctor: this database can be very useful if you’re looking for a professional to help you in your journey
  • Dirty Genes: I haven’t read this book yet, it’s not just about this specific mutation, but I heard a lot of good things about it, so I’m going to read it asap.


I’m not getting any supplement right now, and I know that online you could find a ridiculously long list of what you should take. IMO, unless your doctor/practitioner suggests it, you won’t need all that stuff. Start with a blood test to check your B12, folate and homocysteine levels. If everything looks good, amazing! It means you’re already doing everything pretty well. If your results are a little messy (low B12, high homocysteine) get help using supplements (B12 and Folate, not folic acid). Something you can use to help your body detoxing is glutathione liposomal (I used both this and this).

If you’ve been following me for a while now, you know that I always try to be as honest as I can, opening about my diet and health issues. So at first, as soon as I discovered having this mutation, I wrote about it on Facebook, and someone started commenting with links and links about all the risks associated with it and I got really scared and anxious. And my husband told me “That’s what happens when you post personal stuff on social media”, and even if generally I love to publish personal stuff on social media because I think it can help someone who’s in the same situation as I am – you have no idea how many people wrote me that they were struggling with animal food cravings or health issues but they weren’t able to just “let go” and listen to their bodies…and eat that damn healthy salmon – but in that case he was right, I wasn’t prepared to talk about it.

After a couple of weeks of reading and talking with people who suffer from the same mutation, and especially, after talking with Arianna (my dietitian), I feel ready to write about it. This post is gonna be long and dense, but I’m gonna separate it into paragraphs so you can jump ahead and read only what you want to be informed about! I’ll talk about:

  • What’s an MTHFR mutation?
  • Which are the symptoms and the risks linked to it?
  • How can I know if I have the mutation?
  • What’s the treatment?

What’s an MTHFR mutation?

MTHFR stands for Methylenetetrahydrofolate Reductase, which is a very important enzyme in the body, since it’s essential to convert both folate and folic acid – each a form of Vitamin B9 – into its active, usable form called 5-MTHF or 5-methyltetrahydrofolate, which is essential for methylation to occur (a metabolic process that switches genes on and off, repairs DNA and many other important things). A mutation in the gene may, therefore, affect enzyme function.

Folate, which comes from food, is implicated in numerous organic reactions:

  • in the DNA and RNA synthesis: that’s why it’s recommended to women supplementing with it* when trying to have a baby because their cellular growth is fast and folate is essential to prevent permanent damage in their DNA;
  • in the metabolism of serotonin, dopamine, and norepinephrine, important molecules for psychic health;
  • it allows the development and growth of both red and white cells, so a deficiency causes immunity issues and weak tissue oxygenation;
  • it’s essential to detox the body from homocysteine (it’s an amino acid and breakdown product of protein metabolism that, when present in high concentrations, has been linked to an increased risk of heart attacks and strokes).

*it’s important for us, mutant, that we can’t take folic acid – which is basically toxic for us – but we have to use a folate supplementation instead.

Studies say that roughly 30-50% of us carry a mutation in the MTHFR gene, but the two main functional ones (also known as polymorphisms) of the gene are the C677T and the A1298C – here you can read where do these names come from and what they mean. By the way, most people with a mutation remain unaffected and do not experience symptoms, however, for some, enzyme efficiency can drop down to between 30-70% depending on the variant of mutation.

Differences among mutations

I have a homozygous mutation in my gene C677T, that means that the mutation is on both alleles (the two + in the red slot), while the A1298C is just fine.

If your result comes back like this below, it means that you have a heterozygous mutation, on one allele only.

If you have one + on both the C677T and the A1298C genes, you have a compound heterozygous MTHFR mutation.

Heterozygous MTHFR mutations seem to have only minor influences on enzyme activity and health. Heterozygous A1298C is also thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 40%.

The mutations that have the greatest influence on health are the homozygous A1298C (with a loss of the enzyme function of the 40%), the homozygous C677T  (with a loss of the 70%) and the compound heterozygous A1298C + C677T.

Since it’s genetic, your children may have the same mutation you have: in our case (these 2 images above are respectively my and Lorenzo’s results) they’re surely going to have at least a heterozygous mutation.

Which are the symptoms and the risks linked to it?

There’s a huge range of symptoms!

  • fertility issues and proneness to multiple miscarriages;
  • cardiovascular issues, which an augmented risk of venous thrombosis;
  • depression, ADHD, bipolar disorder, schizophrenia;
  • faster aging;
  • the work of mitochondria, the powerhouses of the cell, is compromised, so the metabolism slows down (we feel always tired and lethargic) and we’re more predisposed to mitochondrial diseases;
  • oversensitivity to xenoestrogens (which can lead to endometriosis, severe PMS, ovary/breast fibroids);
  • IBS (irritable bowel syndrome);
  • autoimmune diseases;
  • high homocysteine levels;
  • folate deficiency;
  • B12 deficiency;
  • etc.

I joined a Facebook group about my mutation and another one about pregnancy and MTHFR, and, oh boy! In the beginning, I was really scared. I read about mothers with 4-5 children, all with health issues, like autism, AHDH, severe food, and environmental allergies; people suffering from any kind of issue, taking 90759537 pills a day and using any tool available to detox their environment. Then I started reading about other women with my same homozygous mutation who have perfectly healthy kids; I talked with Arianna and she confirmed my assumption that, if treated, this mutation is not invalidating and you can have a perfectly healthy life. She only recommended to take a couple of supplements and do a blood test after the protocol – but, in the meantime, I became obsesses with the Berkey water filter so I think we’re going to buy it very soon since I only drink Brita filtered tap water and it basically does nothing. Anyway, I decided to write an email to my physician here (she basically only order a blood test if you’re sick) telling her about the mutation and asking if she wanted to recommend something. Well, if you follow me on Instagram, you may have seen the number of vials I had to fill! And the results were really great.

I already talked in the past about my severe B12 deficiency a few years ago that made me suffer from diplopia (double vision) for more than one year, and that was the biggest alarm bell for Arianna. My B12 level was around 220pg/mL less than one year before, and then I was at 56pg/mL! That’s almost impossible even for someone who’s been vegan for 10 years. So she almost immediately suspected that I had this mutation, and now I can say she was totally right. Now that I’m not vegan anymore and animal protein is a daily thing, my B12 level is at 740pg/mL. You can’t imagine how happy I was when I read it. Homocysteine is at 7.1 umol/L – which is fine since the standard range is up to 12umol/L – and my folate is at 8.5ng/mL – it has to be higher than 4.0 – so everything looks perfect.

How can I know if I have the mutation?

If you recognize yourself in the list of symptoms, it may be a good idea to give a genetic test a try. We bought ours from 23andme. I honestly suggest to buy the complete kit – I discovered to be carrier of a quite severe and rare disorder (Congenital Disorder of Glycosylation Type 1a, that affects the nervous system and other parts of the body; it’s characterized by developmental delay, muscle weakness, and failure to gain weight.), but luckily Lorenzo isn’t – but if your only concern is to know about MTHFR, the basic $99 one is enough. Once you have the results, you can download the raw data from the website and upload it on Genetic genie, which is going to show you a chart like the ones I showed you above but with many raws of genes and a few pages of explication about your genetic makeup.

What’s the treatment?

The protocol for the MTHFR mutation is quite overwhelming if you read it on Dr. Ben Lynch – who’s probably the greater expert about the mutation and his website is THE source for most of the people affected by it – but every health practitioner may recommend something different, especially based on your own symptoms and blood test results. Rules that apply to everyone and are quite easy to follow (in my opinion) are:

  • avoid food fortified or drugs with folic acid;
  • avoid folic acid-blocking drugs such as birth control or Methotrexate;
  • avoid drugs which increase homocysteine such as Nitrous Oxide (most used in dentistry) or statins to reduce cholesterol;
  • void antacids and the anti-contraceptive pill as they block absorption of vitamin B12 and other nutrients;
  • void theophylline and green tea in general (goodbye matcha) – but black tea is fine to consume;
  • if you are pregnant, find an OB/GYN or midwife who is knowledgeable about MTHFR (especially if you didn’t know about your mutation before getting pregnant, your child could have some minor issue like the tongue tie that can make breastfeeding a little more complex: having an expert at your side could make a difference!);
  • eat a wide range of grains, focusing on the gluten-free ones (they usually recommend to completely avoid gluten, especially wheat, but unless you have severe symptoms, I think you’ll be fine. I eat whole wheat bread and pasta, but also millet, buckwheat, barley, rice, etc.);
  • as dairy, use goat and sheep yogurt and cheese (grass-fed cow yogurt could work too);
  • limit or avoid intake of processed foods (cooking at home is fun and you don’t need hours to prepare a healthy meal);
  • eat grass-fed beef, free-range, hormone-free and antibiotic meats and eggs;
  • make your body and environment as toxin-free as possible – without getting crazy and focusing on what you think is really worth it for your current situation. In my case it’s buying a better water filter, not just for drinking, but also for the shower, since not only our skin absorbs everything but we also inhale the bad stuff when we take a hot shower; going on detoxing my beauty cabinet; using toxin-free cleaning products; avoid plastic containers for my food; I may start a new detox bath routine once a week since it seems to help – with this mutation our liver struggle detoxifying so both avoiding toxin and removing them is the key.

In the end, I realized that what I’ve been doing in the last 8-9 years, which is eating organic, avoiding processed foods, alcohol and smoke, and generally, trying to have a healthy lifestyle, may have helped with my mutation, but now I understand where does my little health issues come from and how I can help my body even more. Another interesting thing Arianna realized looking at my complete genetic report, is that my body is a “creature of habit”. In the past, I noticed that my body was working perfectly for 2 weeks in a row (that means a bowel movement a day, no bloating, energy, etc) and then, with no change in diet or lifestyle, everything was back to normal (constipation, fatigue, etc), with no explanation. Well, that’s because my body needs continuous changes or it gets…bored and stops working as it should! So Arianna made some tiny changes to my diet to wake it up – and I’ll have to learn when and how to do it by myself.

We’re at the end of this long post. I hope you find it somehow helpful. Of course, I didn’t talk about a lot of details, but the subject is ample and we’re not all the same, so if you discover having this mutation, don’t get scared. I honestly was almost relieved when I realized that my health issues were real and had such a deep reason and that I can help my body better than before!


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  • How fortunate Valentina, that you could find this out and that there’s a way to treat and live with this mutation. It’s quite fascinating how we are ruled by genes and DNA. So well written, thank you for sharing. xoxo

    • Yes, I feel very lucky to have Arianna as a friend and my dietitian, because I wouldn’t have any idea about it without her! Unfortunately, I know that the majority of us doesn’t have this luck and may have never heard about this mutation – I read about women who had multiple miscarriages due to this mutation and their Ob-gyns and physicians have never even considered it, since most of them are not educated about it. I hope that this post can help those who feel that there’s something wrong with their health – as I felt for months, maybe even years – but they’re not able to find the source of all their issues.

  • I had my test 2 years ago, but it was a genetic test for meds….what I could & could t take. That’s how I found out I have MTHFR 677….(I think).
    The Dr. that ordered it was no longer my dr. so I didn’t have anyone to explain it to me, I’ve been researching myself for 2 years. It can be frustrating.

    • It’s really frustrating, especially since each one of us has different needs. I really hope you’ll find a practitioner who can help you <3

  • Thank you for this wonderful post and for sharing your story. I found out I have the homozygous version. I was a vegetarian for two years and had to start eating grass-fed, pastured meat again which was a VERY hard and agonizing decision for me but I felt my body crying out for it. I am now taking methylated supplements and am starting to feel better so I’m hopeful! Thanks again 🙂

  • Hi Valentina!

    I was told I had this about 2 years ago and to just stop my birth control and start taking a baby aspirin daily. May I ask what other supplements you are taking? The doctor that gave me this diagnosis is no longer my doctor and I’m wondering if there is anything more I can be doing or taking to help. Thanks!

    • I honestly would reconsider taking the baby aspirin daily, I only heard about its use during pregnancy! As supplements, I’m not taking any at the moment but I took folate and B12 for a month and glutathione liposomal for 40 days. I’d suggest finding a new doctor who’s aware of the mutation and can give you personalized supplementation ^_^

  • My dad has this exact mutation and has so many health issues. His was really brought to the surface when he had a life threatening case of appendicitis (he lived with a ruptured appendix for two years and had gone septic.) He has a serious food addiction and hasn’t been able to lose any weight no matter what kind of diet he’s on. This mutation is so interesting because so few people know about it but it can seriously affect everything in your life. Thanks for sharing the information you have and your personal struggle.

    • Omg Alene, I’m so sorry for your dad! I hope he gets better and can deal with all his issues. I feel really lucky because I know how many people with this mutation have too many health problems – and so many people have these issues and have no idea about this mutation.

  • I found out I have it after losing 2 babies prematurely at 23 weeks and 21 weeks. All the doctors in the hospital just said ‘it’s fine, ,don’t worry just take folic acid’ I now went to a top high risk pregnancy doctor who told me what to take to treat this while pregnant, and hoping it will work out. You say that bc can block the folic acid from being absorbed, but what am I supposed to do if I don’t want to become pregnant?
    This is the easiest way for me.
    Don’t just trust doctors blindly, do your own research and get advice from people who have been there who is good to go to, etc. The MTHFR gene is linked with placental abruption also which is what happened to me. The doctors argue over whether it is my cervix that is the issue or this but I will be covering all bases next time just to make sure.
    this is not to make anyone worried but to make you aware and to be pro-active about your health.

    • I’m sorry Sarah for your losses, but I don’t really understand what do you mean about folic acid and not wanting to get pregnant. I know that we’re supposed to get folate and not folic acid and a lot of women also take baby aspirin and some other supplements. I’m now not ready to start a family but I’m gonna look for a specialist in the area to be sure I’m doing everything I can to avoid miscarriages.

  • Hi! I just found out I am “heterozygous for the C677T polymorphism in the MTHFR gene”. Can you explain that a bit to me? What is the difference between heterozygous and homozygous? I’m only 23, I’m a bit scared by all of this.

    Thank you!

    • I’m so sorry Mak for the delay in my response!
      Luckily as heterozygous you should have fewer issues. You can check the paragraph about “DIFFERENCES AMONG MUTATIONS” ^_^

  • Hi Valentina

    Great article. You mentioned Adriana made some tiny changes to your diet to wake them up. Could you please share what they were as I have the same symptoms. Many Thanks Colin

    • The tiny changes were really tiny! Like adding 10 grams of grains in the morning and removing 10 from dinner, that kind of thing!

  • Hi Valentina,

    Thank you for sharing your story. I can relate to it in so many ways! I know I have the bad MTHFR gene from both my parents. Also other SNP’s on genes that interact ( in a bad way) with the MTHFR snp. With many health issues as a result. I think you wrote in a very understandable way about the subject. English is nog my mother tongue ( it is Dutch) and this way I can understand it better, so thank you for that!

  • Hi-I enjoyed your article. I found out I have the gene, well actually both mutations, after a stillborn child 16 years ago. Your comment about feeling good two weeks and then boom,it hits you definitely hits home! But I too, am glad to find out that there is a reason for feeling like I have, and supplements have definitely helped me feel better. The question I have is why not the green tea? Or, matcha?! Thank you oh, and don’t want to scare anyone, I had 2 healthy children before then!

    • Hi Beth! I’m sorry for your loss. Even if it was 16 years ago, I’m sure it’s still painful (virtual hug).
      About green tea, some substances can danger the balance folate/B12 – that’s already kinda problematic for us – and theophylline, contained especially in green tea and therefore matcha, is one of the culprits.

  • I just recently found out that I have this mutation. I found out while being checked in to deliver my 3rd(healthy) baby.The nurse mentioned it while reviewing my health history. I didn’t think much of it because she didn’t make it seem like it was important. That was 7 weeks ago and I’ve been struggling with low energy and depression(both of which I dismissed as part of postpartum). So today I get some test results back and it was on the result list and so I began to research it. Like other people you mention, I have been struggling to find information that I can understand and how I can take better care of myself. Your blog was very helpful. I hope that you post more information as you get it! Thank you!

    • Congrats for your baby! I’m happy and almost surprised that finally, health professionals are talking about it and even testing it 😀
      As update, I can only say that following a grain-free diet with animal protein at every meal is really helping me. It’s often recommended to just go gluten-free with this mutation, but avoiding grains completely helped me a ton!

  • I’m so grateful for this blog. I was just told that I am Homozygous for the MTHFR C677T variant (two copies). My risk will be even higher than most. I already suffer from Chronic Fatigue, Polycystic Ovarian Syndrome and IBS. Thank you for all the useful information and diet. Julie

    • I have the same mutation but I think that growing up in Italy and eating a clean diet from very early helped me a lot. I’m happy you found this blog helpful <3

  • I was just today diagnosed with this mutation and I am going to see a hematologist in a couple of weeks. My grandma told me she had this before she died a few years ago – I had no idea she had a diagnosis, but she suffered 5 miscarriage and had 3 naturally born children but wasn’t diagnosed with MTHFR mutation until later. I’m glad she told me about this or I’d never know to be tested in the first place.

    That being said, this post brought me comfort for being so straightforward. I’m 9 weeks pregnant today and grateful for your help in sharing your journey. Thanks, Valentina, for these resources.

  • This is well written. There are only a few people who are aware of MTHFR C677T homozygous mutation so this post is very helpful. It’s good to know that there is a treatment for this disorder. I wish you well.