Arsenic exposure increases risk for cancers and is teratogenic in animal models. Here we demonstrate that small ubiquitin-like modifier (SUMO)- and folate-dependent nuclear de novo thymidylate (dTMP) biosynthesis is a sensitive target of arsenic trioxide (As2O3), leading to uracil misincorporation into DNA and genome instability. Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) and serine hyd...

AIM To assess the association between ABO blood group genotypes and genetic risk factors for thrombosis (FV Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations) in the Croatian population and to determine whether genetic predisposition to thrombotic risk is higher in non-OO blood group genotypes than in OO blood group genotypes. METHODS The study included 154 ...

Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases level homocysteine. MTHFR C677T gene polymorphism has been reported as a well-known cause elevated homocysteine associated with cerebral venous sinus thrombosis (CVST). A 34-year-old male was admitted severe headache after generalized seizure. Brain magnetic resonance venography showed thrombus superior sagittal s...

A significant portion of patients treated for pediatric acute lymphoblastic leukemia (ALL) relapse. We hypothesized that common polymorphisms with moderate effect sizes and large attributive risks could explain an important fraction of ALL relapses. Methylenetetrahydrofolate reductase (MTHFR) is central to folate metabolism and has two common functional polymorphisms (C677T and A1298G). Methotr...

Reduction of folic acid to the tetrahydro level introduces a second asymmetrical center into the molecule at carbon atom 6.1 The resulting tetrahydrofolate, and subsequent derivatives, prepared chemically consist of dl mixtures that are only 50% active in biological reactions. The need for fully reactive isomers of reduced folates led to the enzymatic synthesis of tetrahydrofolate from 7, %dihy...

BACKGROUND An association between depression and folate status has been demonstrated in clinical studies, whereas data are sparse on the relationship between depression and other components of 1-carbon metabolism such as vitamin B12, homocysteine, and the methylenetetrahydrofolate reductase 677C-->T polymorphism. The relationship between anxiety and these components is less well known. This stu...

A. 510(k) Number: k093974 B. Purpose for Submission: New Device C. Measurand: Factor II (FII) (Prothrombin) Factor V (FV) Leiden 5, 10 methylenetetrahydrofolate reductase (MTHFR) D. Type of Test: Qualitative genotyping test for single nucleotide polymorphism detection E. Applicant: Osmetech Molecular Diagnostics F. Proprietary and Established Names: eSensor® Thrombophilia Risk Test eSensor® FII...

background: we studied the role of maternal folic acid supplementation in modifying the effects of  methylenetetrahydrofolate reductase (mthfr c677t and a1298c) gene polymorphisms in iranian children with oral clefts. materials and methods: forty?seven newborn infants with orofacial cleft and their mothers were selected randomly. mothers were matched regarding dietary folate intake.the genotypi...

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.