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 the psychic health;
- it allows the development and growth of both red and white cells, so a deficiency causes immunity issues and a 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 a 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;
I joined a Facebook group about my mutation and another one about pregnancy and MTHFR, and, oh boy! At the beginning, I was really scared. I read about mothers with 4-5 children, all with health issues, as 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!