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Methylenetetrahydrofolate reductase (MTHFR), is the key enzyme for the metabolization of homocysteine. When there are mutations to the MTHFR gene, control of homocysteine levels may be altered. MTHFR mutation is a common genetic variant that causes diminishment of normal function of the enzyme.
Mutations are commonly found in the C677T MTHFR gene. When there are gene mutations found in both the mother and father of the patient the gene mutation is known as a homozygote. Homozygous mutation of this gene affects 5-10% of the population, predisposing these patients to the development of high levels of homocysteine. Diets low in folate and B12 can also exacerbate this condition.
Mutations to the MTHFR gene A1298C have also been implicated in their capacity to increase levels of high homocysteine levels when found in conjunction with C677T mutation. There are over 50 known MTHFR variants, but 677 and 1298 are the two prime variants. The numbers refer to their location on the gene.
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