MTHFR gene

The MTHFR gene encodes an enzyme that converts folic acid (vitamin B9) into a form that can be used by the human body, and is also responsible for converting homocysteine to methionine.  Mutations in the MTHFR gene can lead to low blood levels of folate and high levels of homocysteine, which, in turn, can cause certain disorders.

The MTHFR enzyme catalyzes the reduction of 5,10-methylenetetrahydrofolate to the main circulating form of folate, 5-methyltetrahydrofolate, in an irreversible reaction. The products of the folate pathway are involved in the transformation of homocysteine to methionine, an essential precursor for DNA methylation and gene regulation. Mutations in the MTHFR gene can lead to dysregulation of homocysteine levels with consequent accumulation in the blood, resulting in different problems.

In tellmeGen, two common variants (C677T and A1298C) in the MTHFR gene coding for the enzyme methylenetetrahydrofolate reductase are analyzed. Both genetic variants are frequently analyzed and studied because of their potential association with folic acid processing efficiency and various conditions, including various types of cancer, coronary artery disease, altered plasma lipid levels, and neural tube defects.

However, many of the scientific findings remain inconsistent and inconclusive, so both variants are not tested during clinical practice.

Gene or region studied

  • MTHFR
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