What exactly *IS* this MTHFR I’ve been talking about? MTHFR is shorthand for the methylenetetrahydrofolate reductase (methyl-ene-tetra-hydro-folate-reductase) gene mutation. That’s a mouthful, isn’t it? I still have trouble pronouncing it. Many people think it looks like disemvoweled swear word, and I think that’s appropriate! Please understand that MTHFR is far more complicated than anyone can convey in a simple blog post. There are multiple websites and forums devoted to the science and study of MTHFR. I’ll link a few at the end for further reading. But for now, I’m going to attempt a brief overview.
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| methylation cycle [3] |
First of all, variations in DNA are normal; we all have them! It’s estimated that there are about 10 million variations, and they’re the reason for the human race’s diversity. Some gene variations cause Down Syndrome and Cystic Fibrosis, and they are even responsible for curly hair and color blindness. They influence how we look and behave, and how our bodies work.
The MTHFR gene mutation is one of the variations that has an effect on how the body handles certain chemical processes. The normal MTHFR gene produces MTHFR enzyme, which is used in the methylation of B9 (folate) and makes it into methylfolate (5-MTHF), the active form that is usable by the body. Methylation is one of the most important processes in the body. [1] The diagram to the right shows how complex it is, and you can clearly see the beginning and ending products. I’ll write more about the role of folate and folic acid in the future.
When the MTHFR gene is mutated, the exact correct enzyme isn’t made. But the enzyme must be perfect in order for methylation to happen correctly. “It is similar to the grooves on key. If the grooves on a key are slightly different than the lock, the key may fit and turn the lock a little, but it does not unlock the door.” [1] So the methylation cycle is not optimal, and not enough methylfolate is produced. Undermethylation has been linked to a number of conditions, including:
- Elevated homocysteine, which is associated with heart disease and stroke
- ADD, autism, bipolar, and other mental disorders
- Dementia and Alzheiner’s
- Chronic fatigue and fibromyalgia
- Infertility and miscarriage
- Birth defects including spina bifida and cleft palate
- Cancer
- Autoimmune conditions
- Low glutathione levels
- Decreased ability for detoxification
- Folate deficiency
- Chronic anxiety and depression
- Migraines
- Blood clots and anemia
- Irritable Bowel Syndrome [1][2][3]
The two main MTHFR gene mutations are found at position C677 and/or A1298 on the MTHFR gene. They are passed down from parents, and you can have one or two copies of either one, or both! Here are the possible combinations:
- Heterozygous Mutation: This is the most common and less severe of all the mutations. It means you have 1 normal gene and 1 mutated gene. The mutation will either be on the 677 or the 1298 position. The MTHFR enzyme will run at about 55-70% efficiency compared to normal MTHFR enzymes.
- Homozygous Mutation: This means you have 2 affected genes on either the 677 or the 1298 position. In this case, your MTHFR enzyme will only run at about 7-10% efficiency.
- Compound Heterozygous Mutation: This is when you have 1 mutation on the 677 gene and 1 mutation of the 1298 gene. This combination is more severe, due to the fact that you will have symptoms of both gene defects. [4]
Mr Foxy is homozygous A1298, and has a greatly reduced methylation and detox system. He should not have folic acid or any vitamin enriched foods, foods with any preservatives or additives, and there are certain drugs and anesthesias he should avoid as well, as he would have a hard processing and detoxing them.
So MTHFR is not a condition that Mr Foxy has, but a deeper understanding of his biological make-up and how his body works. Knowing about his MTHFR gene is a piece of the puzzle in his health, and helps us determine the best diet, supplements, and lifestyle choices we can make to help him be his healthiest. We are not intimidated, but rather empowered having a greater understanding of what MTHFR is and means.
Sources and further reading:
Methylfolate ra
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