I have recently been diagnosed with the C677T heterozygous gene mutation. What I would most like to know is: does this mutation have any bearing or is it something I do not need to concern myself with?
MTHFR gene mutation is a genetic change that affects an enzyme involved in breaking down the amino acid homocysteine.
C677T and A1298C are two very common MTHFR gene changes. In America, about 25% of people who are Hispanic, and 10-15% of people who are Caucasian have two copies of C677T.
These gene changes have been studied as possible risk factors for many common conditions. Studies have found that women with two C677T gene changes have an increased risk for having a child with a neural tube defect. This risk is further elevated if the developing baby also has two C677T gene changes. Women with two C677T and high homocysteine levels may also have a mildly higher risk for pregnancy loss. Studies have also found that men and women with two C677T gene mutations and high homocysteine levels may be at a mildly increased risk for blood clots (venous thromboembolism).
Wilcken B & cols. Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): Findings from over 7000 newborns from 16 areas world wide. J Med Genet 2003; 40(8):619–25.