Methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme for the homeostasis and metabolism of intracellular folate. However, it known that one commonly found MTHFR gene SNPs (A222V) causes a decrease in activity which decreases folate levels increases accumulation homocysteine blood. The purpose this study was to investigate molecular dynamics wild-type protein A222V mutant silico. A...

ORIGINAL ARTICLE Prevalence of Three Prothrombotic Polymorphisms: Factor V G1691A, Factor II G20210A and Methylenetetrahydrofolate Reductase (MTHFR) C 677T in Argentina Valeria Genoud1, Mercedes Castañon1, Joyce Annichino-Bizzacchi2, Jorge Korin1 and Lucı́a Kordich1 on behalf of the Grupo Cooperativo Argentino de Hemostasia y Trombosis 1Facultad de Ciencias Exactas y Naturales. Dpto. Quı́mica Bio...

A 55-year-old, previously healthy woman, presented with frequent headaches. She had no neurological disturbances, but had a positive family history; her father died from stroke. Magnetic resonance imaging showed brain infarction; therefore detailed diagnostic evaluation of thrombophilia markers and genetic testing were performed. The patient was found to be homozy- gous for the C677T mutation o...

Molecular beacons are oligonucleotide probes that become fluorescent upon hybridization. We designed molecular beacons to detect a point mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a mutation that has been related to an increased risk for cardiovascular disease and neural tube defects. The application of molecular beacons enables fast, semiautomated, accurate mutation dete...