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MTHFR Deficiency
6 Replies
Fantod - July 31

MTHFR Gene Mutation

This is interesting as it mentions fibromyalgia as a possible outcome of this deficiency. Genetic testing is needed to determine if you have the problem. Also, I was told that Canadians have a higher incidence of this mutation.

What is it?
The gene MTHFR (Methylenetetrahydofolate Reductase) encodes the protein MTHFR. Its job is to convert one form of folate (5,10-Methylenetetrahydofolate) to another form of folate (5-Methyltetrahydrofolate). 5-Methyltetrahydrofolate is used to convert Homocysteine (a "bad" amino acid) to Methionine (a "good" amino acid). Therefore, if MTHFR is not doing its job as well, homocysteine will not be converted to Methionine and will be elevated in plasma. Elevated Homocysteine has been associated with a variety of multi-factorial diseases.

Essentially what this means is that the genes that instruct MTHFR to convert homocysteine to Methionine are mutated and may not be capable of doing this important function. MTHFR is an enzyme that converts Homocysteine to an essential amino acid (Methionine). When the genes are mutated you may be lacking this enzyme. Your Homocysteine levels can possibly climb making the blood clot. Some doctors don't check for the MTHFR mutations and rely only on homocysteine levels. This isn't as reliable as testing for the mutations, because Homocysteine levels fluctuate (if you catch your level on a normal day, you may go undiagnosed).

What Type Do I Have?
With MTHFR, there are two different genes identified for this mutation, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous." The MTHFR gene mutation has varying degrees of possible implications. The order of potential severity from most to least is:
1. C677T & C677T (Two C Copies - C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
3. C677T (One C Copy - C677T Heterozygous)
4. A1298C & A1298C (Two A Copies - A1298C Homozygous)
5. A1298C (One A Copy - A1298C Heterozygous)

The MTHFR mutation is fairly common in the general population. Approximately 44% of the population is heterozygous and another approximate 12% are homozygous for the MTHFR mutation. Compound heterozygous and homozygous MTHFR have the highest incidences of being linked to implantation failure, late term miscarriages, specific birth defects and overall vascular health. Whichever type of MTHFR you have, it should not be discounted, particularly if there is a personal or family history of any such incidences.

What Are the Implications?
Any and all of the mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause medical complications. Many other MTHFR patients have normal homocysteine levels; yet have had implantation problems, m/c(s), and/or stillbirth(s) due to clotting problems. So it is important to find out your Homocysteine levels (although again, normal doesn't necessarily mean all is well). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise.

Research shows that high homocysteine levels and/or those with the mutation show a higher propensity for thrombosis (blood clots), arteriosclerosis (hardening of arteries), Alzheimer's, stroke, heart attack, Fibromyalgia, migraines (especially with "Aura" migraines), osteoporotic fractures, bone marrow disorders and for those of child bearing years, it has found to be connected to higher incidences of down's syndrome, spina bifida, other neural tube defects, trisomy, miscarriage, stillbirth, implantation failure, placental abruption, preeclampsia, higher incidences of autism, amongst others. Additionally, if you test positive you may want to have your parents, siblings, and any children you may already have tested, as well. There are a few positives to this disorder. Because folate is necessary for cellular division, there is support that shows having this disorder can actually help keep certain types of cancer cells from multiplying as rapidly, so there are some benefits from having this mutation.

Many doctors prescribe Folgard, which is a prescription vitamin supplement containing high levels of folic acid, B12 and B6. These vitamins are what the body essentially needs to convert Homocysteine to Methionine. To put this into perspective, the average multivitamin contains 400 mcgs , most prenatals have 800mcgs of Folic Acid (200% of the normal daily value). Those that are compound heterozygous and those that are homozygous for the mutation are recommended taking 5 mgs. of Folic Acid/B vitamins (12 times the average multi-vitamin and 6 times more than prenatals). It is also recommended to begin taking a low dose (LD) aspirin (81 mgs) once a day, every day, for the rest of your life.


mimosette - August 1

I find this extremely interesting. Especially the part about those with this mutation having trouble getting pregnant. I did. (Only have the one child , never used birth control). My grandmother, who I am pretty sure had fibro, didn't have a child until she was 44 !
Also, it mentions the benefit of this mutation as keeping certain cancer cells from multiplying. My grandmother was the only one of eleven children to not die of cancer! Cancer is rampant on her side of the family.
The best I have felt in years was right after having a hysterectomy when I was very anemic and was put on a prescription of 3 months worth of a strong folic/B supplement. After about 4 months of not taking it, I am back to the same old same old.


Fantod - August 3

mimosette - A friend of mine was just diagnosed with a double mutation of this deficiency. She is someone who is commited to a healthy lifestyle and has been her entire adult life. No matter what she did, she always felt tired and achey. As long as I have known her, she has had some sort of stomach problem. Last fall she suddenly developed a raging case of IBS and dropped about 20 pounds in a month. That was attributed to stress. Then she became pregnant. Unfortunately, she lost the baby early on in the pregnancy.

She has been trying to sort out what the heck is going on with her body for years. She went to holistic physician who immediately suspected that this deficiency is a big part of the problem. And, he was more than right. Now she will start on a series of shots once a week to manage the problem.

She was good enough to tell me about this because of the FMS and also because I am Canadian. The doctor specifically mentioned that (he wasn't specific as to why) Canadians seem to have a higher incidence of this mutation. I am going to the same clinic to be tested. I suspect the FMS comes from my Dad's side as he has many of the associated conditions.I will be very curious to see if this deficiency has any bearing on my situation. Take care.


mimosette - August 4

I am a rabid genealogist, and I remember seeing something like this on one of the genealogy chat forums, and now I can't find it. The discussion was that this condition is hereditary, and descendants of people from certain parts of the world are more prone to it.


angel0681 - January 13

Hi there,
I find this completely interesting as well and I am doing a little research of my own on this and will let you all know if I find out anything. I am on MDjunction and have asked all my Fibro friends there if any of them have this gene deficiency. I just recently found out that my sister does, and when I go to the doctor today for my annual check up I am going to mention it to see if I can also be tested for it, since it is known to be a hereditary thing. My mother also has Fibro, so I would be interested to find out if she also has this. I also have severe migraines which seems to be associated with this. It's all very interesting.


lkeen4314 - January 8

I've had many symptoms since pregnancy complications from 1986 to current. Many health issues such as cardiovascular, anxiety, vertigo, joint pain, blood clots (PE's twice)Factor V. I was tested for Factor V about 3 years ago as my younger sister had pregnancy complications and lost 2 sets of twins. She was tested and has Factor V and MTHFR. My doc I went to did not test me for the MTHFR however after reading up on this I believe I have. My father is the carrier as he has had many health problems all related to these gene mutants. I have contacted my doctor via email with no response yet but hoping to get on some form of supplements so I can ease the many health issues this rare disease has on our bodies.


ufoser - September 30

Its wonderful that you are bringing this information to attention of those who wrestle with fibromyalgia symptoms. However, people with MTHFR cannot process folic acid well which is why they are b vitamin deficient in the first place. Many well meaning practitioners, from regular doctors to midwives prescribe Folgard which includes folic acid, the very vitamin these folks cannot process! People who have MTHFR need 5-Methylfolate, not folic acid. Google Dr. Ben Lynch who talks about this extensively.



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