GENETIC AND BIOCHEMICAL THROMBOSIS RISK MARKERS IN PREGNANCY. II. HOMOCYSTEINE METABOLISM

Hyperhomocysteinemia is considered a biomarker in thrombosis risk and adverse pregnancy outcomes. It results from alterations in the key methyl group metabolism of the human cells named "one-carbon metabolism". This involves metabolites homocysteine, S-adenosylmethionine and S-adenosylhomocystein, whose functionality is linked with environmental factors (dietary cofactors intakes of the methylation reactions, such as B vitamins, including folate, methyl donors such as choline, methionine, betaine and alco microelements, including cathions) and also with the endogenous, genetic factors (single nucleotide polymorphisms influencing the functions of genes controlling methylation and transsulfuration pathways such as methylenetetrahydrofolate reductase MTHFR, methionine synthase-MTR, methionine synthase reductase-MTRR, as well as DNA methyltransferase 3b-DNMT3b). Together, these genetic and epigenetic biomarkers are studied on a cohort of pregnant women with and without declared history of previous pregnancy problems in order to be integrated in a thrombophilia evaluation panel, suggesting certain prophylactic or treatment solutions additional to those already established from the coagulation biomarkers.