Folate & Methylation Testing
There are about 40 different genetic mutations that can affect MTHFR. About 40% of the population has one abnormal gene and are moderately affected. About 12% of the population has two abnormal genes and is more significantly affected. Problems associated with MTHFR mutations include elevated risk of stroke and heart attack, increased cancer risk, defects in embryo development (spinal tube defects), and neurological symptoms including insomnia, irritability, depression, brain fog, neuropathy (burning tingling feet and hands), and restless leg syndrome. It also can be a factor in recovery from fibromyalgia and Lyme disease.
For folks who want the technical details:
MTHFR is a gene that codes for an enzyme called methylenetetrahydrofolate reductase. This enzyme is vital for creating 5-methyltetrahydrofolate, an essential substance for converting the amino acid homocysteine into the amino acid methionine. Methionine is essential for amino acid synthesis, formation of glutathione (important intracellular antioxidant), formation of DNA, and detoxification. Methionine is important for formation of SAMe, which plays a key role in metabolism of dopamine, serotonin, and melatonin. Without this important enzyme, all these pathways are blocked.
Testing for MTHFR Mutations
This is a simple blood test that costs about $150. Checking for elevations of homocysteine and RBC folate in the blood is an indirect way to check for the problem. The best solution for elevated levels is getting plenty of natural 5-methyltetrahydrofolate (methylfolate for short). Leafy greens are a great source, but if you have a mutation, supplementing is a good idea. Folic acid, found in most multivitamin products, will not work because it must be converted by the deficient enzyme.
You must supplement with 5-methyltetrahydrofolate. 5-methyltetrahydrofolate 400-800 micrograms daily is generally adequate for anyone with a single mutation (especially if you eat plenty of leafy greens). If you have a double mutation, it is a good idea to take an extra 400-800 micrograms. For additional benefit, you can add SAMe 400-800 mg daily. SAMe supports detoxification and can improve sleep (take it in the evening).
Chemical components called “methyl groups” that are essential for proper detoxification can also be supplied by vitamin B6 and vitamin B12. It is, however, important to get the activated forms of these important vitamins. The activated form of vitamin B6 is pyridoxal 5-phosphate and the active form of vitamin B12 is methylcobalamin.
Healthful diet and adequate supplementation of methyl donors is generally adequate for recovery. MTHFR testing is only necessary if recovery is not progressing.
Dr. Rawl's writes: "In my medical practice, I had the fortune of working with a lab that measured MTHFR for no charge. For the five years it was available, I tested all my patients. Surprisingly, I found it played a more minor role in recovery than I expected. I had chronic Lyme sufferers who were severely symptomatic who had no mutations and perfectly healthy people who had double mutations."