The 5,10-Methylenetetrahydrofolate reductase (MTHFR) is the metabolic enzyme involved in conversion of homocysteine to methionine through the remethilation pathway. In fact, it catalizes the transformation of 5,10-Methylenetetrahydrofolate in 5-Methyltetrahydrofolate, which is the donor of methyl groups necessary for homocysteine remethilation to methionine, using vitamin B12 as a cofactor.
Besides severe mutations, also some genetic polymorphisms (SNPs) have been identified, able to determine a less grave reduction of MTHFR enzymatic activity with clinical phenotype of medium hyperhomocysteinemia, especially with folic acid deficiency.
High levels of homocysteine are nowadays considered cerebrovascular risk factor (stroke), cardiovascular risk factor, (myocardial infarction) and venous thrombosis risk factors, maybe through a mechanism involving sulphidrilic groups of vessels endothelial walls. A nucleotidic substitution in position 677, C ---> T, give rise to an aminoacidic change at codon 222 with the substitution of alanin with valin.
This change cause the production of a more thermolabile enzyme, with enzymatic activity reduced at 50% and consequent increase of plasma levels of homocysteine, especially if in combination with reduced folic acid assumption. Carriers of the genetic variant MTHFR 677T, specially in homozygosis, have an increased risk for cardiovascular pathology and venous thrombosis. The homozygosis condition has also been observed with higher frequency in mothers of children affected by neural tube defects (DTN) and in the same children, and also in women with miscarriage and pre-eclampsia.
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Screening test for: Genetic Thrombophilia
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