What is a MTHFR?
MTHFR is a gene. It is a section of DNA that is responsible for producing an important enzyme. Enzymes are proteins that drive many biochemical reactions. Enzyme function is essential for your function as a living entity. MTHFR is also pronounced (Mother @#$!% by graduate students. And by younger faculty when they think tenured faculty are not listening.) The enzyme is called Methylenetetrahydrofolate reductase. It is key to converting folate (Vitamin B9) to a form that the body can use.
If you had no methylenetetrahydrofolate reductase you would be screwed. Fortunately this is extremely rare. Possibly because few would survive long enough to be born. However, life being complicated . . . there are several different forms of the MTHFR gene. The different forms produce slightly different kinds of enzyme. The “normal” form is found in most people. About 70% of the general population. The other 30% have mutations. Chances are high that someone you know is a mutant. You may be a mutant too. And there are different kinds of mutants. “Normal” has two copies of the gene that makes high function enzyme. Someone could have one normal and one mutant. This person would make less high functioning enzyme. But more than someone with two mutant copies. About 10% of the population is thought to have two mutant copies. There are also different types of mutations. So there is probably a range going on here. In terms of how much methylenetetrahydrofolate reductase is circulating in people.
What does it mean health-wise for MTHFR mutants?
MTHFR mutants can’t convert folate to its useable form as well as MTHFR normals. They are more likely to be folate-deficient. This can lead to greater risk of some birth defects. For example: spina bifida and anencephaly. (not having a brain). Mutants are much more likely to get migraine headaches. The kind of headache with aura. They are also more likely to get cardiovascular disease. Even if they do everything else right. Other bad things are:
- More severe forms of schizophrenia (not all MTHFR mutants have this! Or so says a very reliable voice)
- More likely to suffer from depression
- Greater risk of high blood pressure
- Greater risk of pre-eclampsia
- Greater risk of some cancers
- Greater risk of birth defects including heart defects and spina bifida
Some good things about being a MTHR mutant are:
- Less risk of colon cancer
- Less risk of leukemia
What are the chances that I am a MTHFR mutant?
A lot of research is still being done. So far it looks like there are 24 different polymorphisms. So far it looks like people of Mediterranean descent and Hispanics are more likely to have a MTHFR mutation. General Caucasions are next. MTHFR mutations seem to be least frequent in people of African ancestry. See this article (page 12 for a chart). If you look at the chart you will see that MTHFR mutations are not uncommon at all. So don’t feel bad if you are one. You will need to be more careful about heart disease. If you are a young woman of childbearing age you should make sure your diet contains enough folate. If you are low in folate AND a MTHFR mutant you may be more likely to have health problems.
Is there anything I can do about my mutation (Does CrossFit fix mutations)?
Possibly yes. Methylenetetrahydrofolate reductase is only one step in the conversion of folate to its useable form. There are now folate supplements you can take in which the folate is already partly converted. These are available by prescription. Some people are taking them to help combat depression. It will be interesting to see if such supplements will also control migraine headaches. And cardiovascular disease. And birth defects. Very exciting. Oh. CrossFit will not help with this.
What about diet? Are people on the Paleo diet protected?
People who have the MTHFR mutation may need more folate than others. Regardless of what diet they follow. Increasing folate intake may protect them from heart disease. And other problems. Beans and whole grains are major sources of folate. Fruit, vegetables and liver are good sources too. People who drink alcohol regularly will need more folate than others. So will young women. People who follow the Paleo diet (or Paleolithic diet) may also have low folate intake. That is because the paleo diet excludes grains and beans. High vegetable intake should help. The paleo diet is popular with CrossFit athletes.
Here are a few citations. For more check pubmed.
Liu A, Menon S, Colson NJ, Quinlan S, Cox H, Peterson M, Tiang T, Haupt LM, Lea RA, & Griffiths LR (2010). Analysis of the MTHFR C677T variant with migraine phenotypes. BMC research notes, 3 PMID: 20663228
Gong D, Gu H, Zhang Y, Gong J, Nie Y, Wang J, Zhang H, Liu R, Hu S, & Zhang H (2012). Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 GA polymorphisms are associated with an increased risk of conotruncal heart defects. Clinical chemistry and laboratory medicine : CCLM / FESCC, 50 (8), 1455-61 PMID: 22868813
Khandanpour N, Willis G, Meyer FJ, Armon MP, Loke YK, Wright AJ, Finglas PM, & Jennings BA (2009). Peripheral arterial disease and methylenetetrahydrofolate reductase (MTHFR) C677T mutations: A case-control study and meta-analysis. Journal of vascular surgery, 49 (3), 711-8 PMID: 19157768