Homocysteinemia (MTHFR)

Product code: GEN44

Category: CardioMetabolic

Category: Genetics

Homocysteinemia (MTHFR)

The enzyme methylenetetrahydrofolate reductase (MTHFR) plays an important role in the metabolism of folate. It catalyses the irreversible reduction of 5, 10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate. This enzymatic reaction is necessary for the synthesis of methionine via the remethylation of homocysteine. If the enzymatic activity is reduced the serum homocysteine is increase. The hyperhomocysteinemia is an independent risk factor of thromboembolic disease, as well as lesions.

There is a relationship between the neural tube defects in newborns and high homocysteine levels in the mother. Genetic variations of the MTHFR gene lead to the synthesis of a thermolabile enzyme that has a diminished activity, predisposing to severe side effects during treatment with methotrexate. In such cases, the detection of the polymorphism of the MTHFR gene allows and assessment of the relative risk for side effects before treatment.