MTHFR (С677Т) (methylenetetrahydrofolate reductase)

DNA diagnostics for a predisposition to pregnancy loss

The enzyme plays a key role in the metabolism of folic acid required for the growth and development of blood circulatory and immune systems. In individuals with the T/T genotype, a decrease in enzyme activity to approximately 35% of the average value and the development of hyperhomocysteinemia occur. The T/T genotype is a risk factor in the case of cardiovascular diseases. Such effects can be corrected by the additional intake of folic acid medications.

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Quantitative assessment of the genetic risk of cardiovascular diseases of various nosologies

The enzyme plays a key role in the metabolism of folic acid required for the growth and development of blood circulatory and immune systems. In individuals with T/T genotype, enzyme activity decreases to approximately 35% of the average value and hyperhomocysteinemia develops. The T/T genotype is a risk factor in the case of cardiovascular diseases. Such effects can be corrected by the additional intake of folic acid medications.

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DNA diagnostics of drug therapy effectiveness

The MTHFR gene encodes an enzyme involved in the metabolism of methotrexate, a drug used for the acute forms of psoriasis, a number of autoimmune pathologies and cancer. Methotrexate is a toxic drug that causes serious side effects. There is an association between the toxicity of this drug and the C677T and A1298C polymorphisms of the MTHFR gene. The substitution of cytosine (C) for thymine (T) at position 677, as well as adenine (A) for cytosine (C) at position 1298, leads to a decreased enzyme activity of the MTHFR gene as a result of which patients have an increased risk of toxic reactions when taking methotrexate.

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