background: factor v g1691a (fv leiden), fii ga20210, and methylenetetrahydrofolate reductase (mthfr) c677t mutations are the most common genetic risk factors for thromboembolism in the western countries. however, there is rare data in iran about cerebral venous and sinus thrombosis (cvst) patients. the aim of this study was to evaluate the frequency of common genetic thrombophilic factors in c...

non-syndromic cleft lip with or without cleft palate (nscl/p) is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. the present study aimed to investigate the association of two common polymorphisms of methylenetetrahydrofolate reductase (mthfr) gene (c.677c>t and c.1298a>c) with the occurrence of nscl/p in an iranian population.forty-five ns...

A K-12 strain of Escherichia coli that overproduces methylenetetrahydrofolate reductase (MetF) has been constructed, and the enzyme has been purified to apparent homogeneity. A plasmid specifying MetF with six histidine residues added to the C terminus has been used to purify histidine-tagged MetF to homogeneity in a single step by affinity chromatography on nickel-agarose, yielding a preparati...

Preeclampsia is a heritable condition that develops as a result of widespread vascular endothelial dysfunction. The thrombotic tendency in this condition has suggested a number of candidate genes, and there have been recent reports of positive association with the Leiden variant of factor V and the thermolabile variant of methylenetetrahydrofolate reductase. We attempted to reproduce these resu...

The aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115). We identified risk fa...

Essential tremor (ET) is a most common human movement disorder of unknown etiology. Previous reports have shown that the C677T polymorphism of methylenetetrahydrofolate reductase gene has been associated with neurodegenerative disorders. To investigate the role of methylenetetrahydrofolate reductase gene polymorphisms in essential tremor, we analyzed the alleles and genotypes of methylenetetrah...

A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.