MTHFR (А1298С) (methylenetetrahydrofolate reductase)

DNA diagnostics for a predisposition to pregnancy loss

When adenine (A) is replaced with cytosine (C), the gene’s enzyme activity decreases. Such carriage leads to hyperhomocysteinemia only in case of joint carriage with the 677T allele of the same gene. Where the 677T allele is missing, homozygosity by the 1298C polymorphism is not accompanied by either an increase in the concentration of total homocysteine or a decrease in a folate level in plasma, but it is a risk factor of a spontaneous abortion. 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

When adenine (A) is replaced with cytosine (C), the gene’s enzyme activity decreases. Such carriage leads to hyperhomocysteinemia only in the case of joint carriage with the 677T allele of the same gene. Where the 677T allele is missing, homozygosity by the 1298C allele is not accompanied by either an increase in the concentration of total homocysteine or a decrease in a folate level in plasma, and it does not increase the risk of cardiovascular diseases.

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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 the 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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