Detecting MTHFR Mutations

Disclaimer: As with all posts on this blog, remember that I am not a doctor or licensed physician, nutritionist or other healthcare professional. Verify anything I say with reputable sources and consult with a physician before starting, changing or stopping any medical treatment for any condition.

Most people I talk to are not that interested in MTHFR until they find out that they (or a close relative) have it. Until a few years ago there was no medically accepted test for the genetic defect, and it was only a few years before that that they were first identified. I refer to changes in the MTHFR gene as "defects", "mutations", "polymorphisms", "disorders", etc. This is not to imply that all the effects are bad. There is an accepted normal gene sequence for MTHFR. Anything different with any negative effects are considered disorders, even if they also have positive effects.

MTHFR is important for DNA and using genes properly. Because MTHFR affects your genes, problems with MTHFR can cause almost any symptom. There are some very common symptoms, though. My physician and I generally consider any person or immediate family with three of these should be tested, and an extended family with four or more should be tested. The most common major symptoms are:

• Depression/Anxiety* (including bipolar depression)
• Irritable Bowel Syndrome (IBS) or Functional Gastrointestinal Disorder(FGID)
• Migraines
• Fibromyalgia/Chronic Pain
  
• Recurrent Miscarriage
• Dementia/Alzheimer's Disease*

There are medications that treat MTHFR that are FDA approved for the conditions above with an asterisk, and the others have been correlated in various studies. Minor symptoms include

• difficulty concentrating
• impaired social ability
• propensity for addiction/alcoholism
• heart disease
• high blood pressure

There is a blood test for MTHFR mutations that can be ordered by any doctor (although many do not know they can order it). There is also a test available from Sciona that tests for MTHFR, MTR, MTRR and a host of other disorders. Both of these tests only check for the two most common MTHFR mutations, so it is possible to be affected even if the test comes back normal. As with all medical tests, there is a chance that the test results in a false positive or false negative. The chances of the test coming back as normal for a person with MTHFR mutations is incredibly small, but it is still a possibility.

To my knowledge, both of these tests require a doctor's prescription. The Sciona test may be not require a prescription, but may be given at a discounted rate if recommended by a doctor. The Sciona test costs between $200-300 in the U.S.

The other option for those who think they may have a MTHFR problem is to start treatment and see if they get better. All but one of the MTHFR treatments I have tried are available over-the-counter. None of them are really any more dangerous than Ibuprofen (Motrin). This makes it possible for individuals to attempt treating themselves, although I highly recommend getting professional advice from someone who has experience in this area in case there are problems.

One last caveat: these symptoms can be caused by other genetic disorders in the methylation pathway, certain environmental toxins, and unrelated disorders. Treatment for these other disorders may be different from treating MTHFR mutations, though the treatments may have some overlap. Just because a person has these symptoms doesn't guarantee they have MTHFR problems, not does having MTHFR problems guarantee they'll have these symptoms. In my experience, though, the correlation has been uncanny.

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)!