Back in 2016 I became aware of a gene study in which researchers at the Institute for Neuro Immune Medicine were hoping to put together a genetic database of over 10,000 patients with ME/CFS so that genetic information would be available for researchers looking into the cause of the disease. Luckily I’d had my genetic data mapped by 23andme years ago so I was able to participate in the study which simply involved filling out a questionnaire and sending off my RAW data via email.
I heard nothing for 2 years and then this week received a message to say that I had a MTHFR mutation and researchers were interested in studying this. Up to 50% of the population may have a MTHFR mutation and it doesn’t mean you are going to develop a disease. In fact it usually has no impact on health at all, though it may predispose people to certain illnesses if other environmental factors are present or mutations in related genes are found.
Amongst other things, the MTHFR gene is responsible for the conversion of folate (also called folic acid or vitamin B9) from the food we eat into activated folate. When the MTHFR gene is mutated this conversion doesn’t work as well and can result in a folate deficiency. Activated folate belongs to a group of ‘energy’ vitamins and a deficiency may produce fatigue and cognitive changes.
The new study would involve taking a L-Methylfolate supplement (the active form of folate) for 3 months to see if it had any impact on symptoms. Unfortunately, however, as the research involves a blood draw it’s only available to people living in the United States so sadly that rules me out which is a shame as the fact it doesn’t involve taking drugs means it’s probably the one study I could have taken part in!
My only concern with much of the current research into ME/CFS is that it focuses on fatigue, and while fatigue is obviously a large part of the disease ME is not chronic fatigue. It’s characteristic symptom is post exertional MALAISE. I feel ill when I’ve done too much (in fact, I feel ill most days of my life) and it’s this researchers need to study. If I’m on the computer for too long I start to get a sore throat and if I walk too far I start to feel fluey – I’m not simply ‘tired’. As there is no diagnostic test for ME many people with chronic fatigue of unknown cause have been diagnosed with it and it’s sadly become a bit of a dumping ground which can only muddy the waters for researchers. If you take a L-Methylfolate supplement and suddenly feel loads better you didn’t have ME in the first place, you had a folate issue.
While the MTHFR gene has other functions and may be implicated in cardiovascular disease, I personally don’t think MTHFR mutations are going to be the answer to ME, at least not unless they have some kind of massive impact on people’s immune systems we as yet know nothing about. That’s my take on the situation anyhow but then I am a cynical old timer 😉 In fact, I wrote a post about MTHFR back in 2015 which states my views on the whole MTHFR issue – be warned, I’m not exactly on board the MTHFR band wagon.
ME aside, if having a MTHFR mutation can make you tired that’s obviously not a good thing when you already feel like the walking dead. Luckily folate rich foods naturally contain the active form of folate and studies have shown that a folate-rich diet can match the homocysteine-lowering effects of a L-Methylfolate supplement. My diet is already quite rich in high folate foods, such as beans, lentils, broccoli and mangoes though if you have a MTHFR mutation and are unable to eat folate rich foods it might be worth taking a L-Methylfolate supplement but be warned they can have side effects which you can read about here. Personally I’m not giving the whole MTHFR mutation a second’s thought, that’s just my personal choice.
If any of you would like an informative, easy to read guide on MTHFR there is a decent one here.