MTHFR is a common genetic deformity that could be
the key to why certain people keep getting sick and how they can get better.
WHAT IS MTHFR?
MTHFR stands for MethyleneTetraHydroFolate Reductase. It is a gene that processes folic acid, an essential nutrient, to a form your body can use.
MTHFR was discovered while they were working on the Human Genome Project. Defects in this gene were found to be very common in the population, so they decided to look into this further. While there are many possible defects in the gene, the most common ones are C677T and A1298C. The names have to do with where on the gene the defect is placed and what the abnormality is.
WHAT DOES MTHFR DO?
MTHFR is the enzyme that turns folate into the more usable form, methyl folate. In people with the MTHFR abnormality, this enzyme doesn’t function quite as well (40 to 80%) as in a normally-functioning person. The methyl folate in turn allows for several other steps to eventually make s-adenosine methionine (SAMe) which can help with over 180 other chemical processes in the body. Because of the defective gene, people with MTHFR deficiency are often deficient in several other important molecules, which can cause a host of problems.
SOME ASSOCIATED PROBLEMS
- Depression and anxiety
- Other mental disorders
- A variety of cancers
- Heart problems
- Congenital defects
- Irritable bowel syndrome
- Chemical sensitivities
- Chronic fatigue syndrome
- Sleep issues
DIAGNOSIS & TREATMENT
Diagnosis can sometimes be made by family history but often it requires a specialized blood test. Elevated folate and B12 levels can be suggestive of this disorder. Occasionally the diagnosis is made presumptively. Treatment consists of treating with pre-activated vitamins – ones that are already in a form your body can use. Not uncommonly people will do remarkably well with these therapies alone, although some people need additional assistance with their various diagnoses.
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