Mutation of methylenetetrahydrofolate reductase (MTHFR) gene | C677T, A1298T

General Information

MTHFR extension The gene synthesizes the enzyme methylene-tetrahydro-folate-reductase, which participates in the process of protein formation from amino acids. Its participation in the metabolism of folic acid is important, because the mirate form of folate is involved in the conversion of homocysteine ​​to methionine. Methionine is an essential component for the formation of proteins and other compounds.

MTHFR extension Up to 40 gene mutations have been found in people with homocystinuria. Homocystinuria is a condition when the conversion process of homocysteine ​​to methionine is disturbed. Such people often have: coagulation disorders, skeletal and nervous system development anomalies, damage to the organ of vision, retardation of mental development and others.

MTHFR extension The 2 most frequent gene mutations C677T and A1298C lead to a decrease in enzyme activity and are associated with the development of such pathologies as: homocystinuria, coagulation disorders, anencephaly, spina bifida and others.

When is the survey conducted?

To detect genetic thrombophilia

Study material: Venous blood