What is MTHFR?

Disclaimer: If you have any medical disorder, seek professional help. The following are a few things that seem to help improve folate metabolism and the best biochemical explanations I can think of. That being said, I am NOT a licensed physician or dietician. Always consult with one before starting, modifying or ending any treatment protocol.

MTHFR stands for methylene-tetrahydrofolate reductase. It is an enzyme found in practically every cell in the body. This enzyme is required to be able to use folates.

Folates are a class of small biomolecules that share some important features. In a normal, healthy individual every one of the dozen or so naturally occurring folate varieties (and some of the synthetic ones) can be converted to any other type of folate. A few varieties of folate are essential for such things as making DNA, turning genes on and off and eliminating some potential toxins. We can't make folates, so they are an essential vitamin. Sometimes folates (in the general sense) are classified as Vitamin B9.

Only one type of folate can move through your blood, and it's not the folate we most often eat (although some is found in fruits and vegetables). In order to get folate where it needs to go, we have to convert it all into 5-methyl-tetrahydrofolate (5-MTHF) in the intestines. MTHFR is the last enzyme in the multi-step process of converting folate.

If MTHFR doesn't work well, either because of genetic mutations or environmental factors, a mild folate deficiency develops. This usually isn't enough to kill a person, but it does affect all aspects of his or her health. Most methods of increasing folate intake (such as vitamin supplements) don't get around this problem. An example illustrates this well: if you can only convert 1/10 of a milligram of folate into 5-MTHF every day, taking 500 milligrams of folate doesn't help any more than taking half a milligram.

Often when I tell people about this they say something like, "wow, that must be a really rare disease." It's not. Two articles in the American Journal of Epidimiology indicate that about half of caucasian Americans have at least a partial deficiency in MTHFR (Botto and Yang, 2000 and Robien and Ulrich, 2003). That is, they have some kind of mutation in MTHFR that prevents the enzyme from working at 100% efficiency. It is less common in most parts of the world, but even the least affected places have about 10% of the people with these mutations.

To my knowledge there are only a handful of doctors in the world that know much about this mutation and the medical problems it causes. Most doctors I have discussed this with have never heard of it. The people who do know about it are researchers, and the techniques developed for treating it haven't gotten to the doctors yet. They will, but it will take some time for knowledge of this disease to trickle down to the average physician.

In the meantime, those who think they are affected can still be tested and treated. Those sorts of things will be covered in other posts.

Welcome! (or Birth of a Blog)

I hate writing, so it may seem odd to my friends and family that I would start a blog. Part of it was a challenge given me by a friend to put some of my thoughts on the most important subjects in a format that others can benefit from them. We'll see if there's anything worth sharing =).

The name of the blog comes from the fact that a lot of my thoughts revolve around metabolic disorders such as mutations in the methylene-tetrahydrofolate reductase enzyme (MTHFR) and the related enzymes methionine synthase (MTR) and methionine synthase reductase (MTRR). These genetic disorders have an interesting effect on the chemistry and physiological development of the brain, so life for someone with these types of disorders is very different from life without them. It's a hobby of mine to study them, and ways to help treat the disorders so that you get all the benefits and none of the liabilities.

Until the next post, have a wonderful day (or at least one that's reasonably decent)!