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. Roughly 33% of Americans carry one copy of a common MTHFR gene mutation (C677T). Having one copy of C677T or another common variant A1298C is not associated with significant health risks. Likewise, having two copies of A1298C is not associated with significant health risks.
Roughly, 11% of Americans have two C677T mutations. These people (as well as those with both a C677T and A1298C mutation) have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. Specifically, studies suggest that people with two C677T gene mutations have a 16% higher chance of developing
coronary heart disease compared to people without these
Does having one C677T mutation in the MTHFR gene increase a person's risk of developing blood clots?
Having one mutation in the MTHFR gene is typically not associated with an increased risk of blood clots, because it usually does not lead to high levels of homocysteine in the blood. People with two C677T mutations may have high homocysteine levels, which may be linked with an increased risk for heart disease and stroke.
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.