Tag Archives: MTHFR

MTHFR Study

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.

 

Advertisements

Methylation/MTHFR

I regularly receive comments about Methylation on my blog.  It’s not something I’ve looked into much mainly because:
a) It’s really fucking complicated and I kind’ve get the impression that even the experts are so new to the field they really don’t know what the hell is going on.
b) I feel like it’s just the latest fad in a long line of fads (like Paleo and coconut oil) – I appreciate this will not be a popular view but it’s mine and I’m entitled to it.
c) I’ve had my genes tested via 23andme and I do have a MTHFR mutation – along with up to 50% of the general population none of whom are sick like me, so I have no clue what bearing this knowledge has on my life.
d) If you have any genetic mutation it doesn’t mean it’s causing disease.
e) I already seem to be following the vast majority of the “lifestyle” recommendations in any event.
f) Even if I do have methylation issues I can’t tolerate any of the drugs, and nearly all of the supplements, used to treat it.
Therefore, the whole area seems like a massive waste of my precious energy.

Dr Lynch seems to be the main man when it comes to Methylation issues, so I had a look on his website.  I’m reprinting his protocol below and my response to it:

Here are the common recommendations for supporting those with C677T MTHFR mutations:

  1. Limit ingestion of folic acid in fortified foods as you cannot process folic acid well.
    I don’t eat fortified foods, so that’s OK.
  2. Limit or cease taking supplements or drugs with folic acid in them. Talk with your doctor before stopping.
    I don’t take any supplements, folic acid or otherwise.
  3. Avoid folic acid blocking drugs such as birth control or Methotrexate.
    I don’t do this either.
  4. Avoid drugs which increase homocysteine such as Nitrous Oxide (most used in dentistry)
    Or this.
  5. Avoid antacids as they block absorption of vitamin B12 and other nutrients
    I take antacids because if I don’t I risk getting oesephageal cancer from un-treated GERD.
  6. Begin understanding which of your symptoms may be related to the C677T MTHFR mutation.
    I have so much wrong with me it would be impossible to tell.
  7. Measure homocysteine levels – properly!
    I can’t afford private testing and there’s no way my GP would prescribe it on the NHS as I’m not at risk of vascular disease.
  8. Inform your family members so they can also test for the MTHFR mutation
    The only family member I care about is my Mum and she’s already dying from something else.
  9. Find a doctor who is knowledgeable about MTHFR or is willing to learn
    Dream on.
  10. If you are pregnant, find an OB/GYN or midwife who is knowledgeable about MTHFR.
    Not applicable.
  11. Eliminate Gluten from your diet – especially wheat.
    I am so sick of everyone and his dog telling me not to eat wheat I eat it just to spite people.
  12. Eliminate or reduce Dairy from your diet. If you must have dairy, use Goat milk.
    Ditto with dairy.
  13. Sauna or sweat somehow (epsom salt baths, sports, yoga..) at least once to three times a week.
    I have a mast cell reaction to heat.
  14. Limit intake of processed foods
    Have done this for the past 20 years.
  15. Increase intake of whole foods and home-prepared meals
    And I’ve done this for the past 20 years.
  16. Eat the Rainbow of colors from fruits and vegetables – daily
    And I’ve done this for the past 20 years.
  17. Castor Oil Packs over your abdomen daily during times of pain, soreness, cramps
    Isn’t that a bit………slippery?  I much prefer my hot water bottle 😉
  18. Vegetable/Fruit Juice Diet with Chia Seeds during times of pain, soreness, cramps
    I drink veg and fruit juice daily.
  19. Limit intake of high methionine-containing foods if homocysteine elevated
    Having looked at the list the top 10 foods are dried egg (which sounds disgusting and I’ve never eaten in my life), seafood (banned on low histamine diet), soy products (also banned on low histamine diet) and meat (I’m pesco-vegetarian).  So I’m doing OK on the worst offenders at any rate.
  20. Coffee Enemas during times of detoxification or pain
    Ewwww!  People with EDS must be very careful of sticking anything up their jacksee due to skin which tears and perforates easily.  Plus any pressure sets off my dermographism causing histamine release, the very thing I’m trying to prevent.
  21. Filter chlorine from your drinking water, shower and bath.
    Like that is going to cure me.
  22. Drink at least two liters of filtered water daily mixed with vitamin C and electrolytes.
    I already drink the water, but eat sugar and copious amounts of salt
    so don’t need electrolytes.
  23. Eat smaller, but more frequent meals, throughout the day with some form of protein.
    I already do this.
  24. Limit protein intake to approximately 0.7 grams protein per kilogram of body weight.
    Hold on, I’ll just get my calculator out and measure every morsel of protein I consume in all of my 6 meals, every day.  Not.
  25. Remove mercury amalgams and root canals with a trained biological dentist.
    I can’t afford to do this, and even if I could I wouldn’t – not without anaesthetic and plenty of pain relief, both of which I’m allergic to.
  26. Avoid cooking, drinking, storing and heating in any type of plastic container.
    I already do this.
  27. Use an air purifier in your home and office
    And I already do this.
  28. Eliminate carpets from your home and install low VOC wood or tile flooring.
    And I’ve already done this.
  29. Eat grass-fed beef, free range, hormone free and antibiotic meats and eggs
    I don’t eat beef, but have eaten organic eggs for 20 years.
  30. Cook with electric stove and oven and remove gas stove and oven.
    I’ve only ever cooked with electric.

Soooo, it seems I’m already following about 80% of the Methylation protocol.  And I still feel like shit.

General Nutrient Recommendations for C677T MTHFR mutations:

  • Methylfolate
    Must admit, never tried it.
  • Methylcobalamin
    Mast cell reaction.
  • Betaine in the form of TMG
    Mast cell reaction.
  • NAC
    Don’t even know what this is.
  • Glutathione
    Mast cell reaction.
  • Pyridoxal-5-phosphate
    Would rather get B6 from my diet (salmon, sweet potatoes, white potatoes) than supplements I would probably react badly to.
  • Riboflavin
    Would rather eat B vitamins in my diet than supplements I would probably react badly to.
  • Curcumin
    Would rather eat turmeric in my diet than supplements I would probably react badly to.
  • Mixed tocopherals (vitamin E)
    Would rather eat vitamin E in my diet than supplements I would probably react badly to.
  • Silymarin (Milk Thistle)
  • Mast cell reaction
  • EPA/DHA
    Would rather get Omaga 3 oils from salmon in my diet than supplements I would probably react badly to.
  • Phosphatidylcholine
    Would rather eat eggs in my diet than take supplements I would probably react badly to.
  • Nattokinase
    Soy is not allowed on a low histamine diet.
  • Vitamin C
    If you’re juicing and eating fresh veg and fruit every day you’re already getting vitamin C.
  • Vitamin D3
    I get sunlight on my skin every day of my life and my last Vit D test was fabulous.
  • Comprehensive multivitamin/multimineral
    Why, if you’re already eating super well and taking Vits B, C, D and Omega oils from all the above supplements?
  • Probiotics
    Not allowed on a low histamine diet.

There’s also a small list of drugs to try, but with my allergy history I wouldn’t touch any of them with a 10 foot pole.

I know this area is a big deal for some of you and if it’s working, and you can afford testing and tolerate the recommended supplements, I’m genuinely happy for you.  But I can’t afford to get tested and having looked at the protocol I’m already inadvertently following most of it and it’s not helping me one iota.

Whether or not I under or over-methylate has no bearing whatsoever on my Ehlers-Danlos.  And as Dr Sam writes on Dr Lynch’s site: “Remember high histamine can be caused by poor diet and/or low levels of DAO in the gut or low levels of other histamine degrading enzymes in the blood which are entirely separate from methylation.”  Thank God someone is seeing the bigger picture.  My twitchy mast cells are caused by my Ehlers-Danlos (faulty collagen) and my problems with food are caused by low DAO (probably genetic), neither of which is affected by Methylation as far as I’m aware.

We’re all different, and that’s allowed.