BACKGROUND Assay of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in homocysteine metabolism, is important for the study of severe and mild deficiency states. Because the conventional assay measures in the reverse direction, lacks sensitivity, and uses nonphysiologic substrates, the exact measurement and characterization of residual activity in easily accessible tissues have been di...

OBJECTIVE To determine the frequency of protein C, protein S and antithrombin deficiency, and factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations in children and adolescents with portal vein thrombosis, as well as assessing the hereditary character of this disorders. METHODS A two-year study was carried out to determine the frequency of thrombophilic ...

The objective of this study was to investigate whether polymorphisms of genes that are involved in one-carbon metabolism (dihydrofolate reductase, methionine synthase reductase, methylenetetrahydrofolate reductase, reduced folate carrier 1 and transcobalamin II) influence DNA methylation in 106 patients with alcoholism. In the multivariate model no genotype showed significant effects on DNA met...

Effective supplementation with folate, which prevents neural tube defect (NTD) occurrence, and high homocysteine levels in the blood of NTD children's mothers suggest that genes involved in folate and homocysteine metabolism can be involved in NTD aetiology. Genes encoding methylenetetrahydrofolate reductase (MTHFR) or methylenetetrahydrofolate dehydrogenase (MTHFD) belong to the first group. G...

AIM One of the main problems concerning repeated spontaneous miscarriage (RSM) is the etiological diagnosis. The relation of thrombophilia to RSM is a matter of debate. In this case-control study, we determined the percentages of three thrombophilic mutations (factor V leiden, prothrombin, and methylenetetrahydrofolate reductase) amongst 20 cases with RSM and 20 control normal parous women. R...