MTHFR mutations are one of the commonly found mutations in genetic testing. If someone is homozygous (carrying one mutation from your father and one from your mother) for the C677T mutation, it may be associated with increased cardiovascular events (heart attacks, strokes), malignancies and birth defects (spina bifida). This does not mean that if someone has the homozygous mutation that person will have a problem. It means that there may be an increased risk.
MTHFR stands for methylenetetrahydrofolate reductase, an enzyme in the metabolic of folic acid. It is also the name of the gene that codes for that enzyme. People with the homozygous mutation have a defective enzyme and may have some difficulty with the metabolism of folic acid. At the same time, there may be increased levels of homocysteine in the blood, an amino acid associated with thrombotic problems.
What to do if someone is homozygous for the C677T mutation? Many people find this after testing in commercially available genetic testing. If this mutation is found, a physician or genetic counselor should be contacted. The most likely next step would be an evaluation of homocysteine levels in blood. If normal, the person should be reassured that its risk for cardiovascular events and other problems is probably similar as the rest of the population. If the levels of homocysteine are high, it does not hurt to try to reduce it by having folate supplements and increased vegetables with the diet.
Marco A. Ramos MD