Research Article Details

Abstract

Methylenetetrahydrofolate Reductase (MTHFR) is an enzyme that is encoded by MTHFR gene on chromosome 1 location p36.3 in homo sapiens. Changes at DNA level like synthesis, repair and imprinting result in the conversion of homocysteine to methionine. This methylation is catalyzed by methylentetrahydrofolate reductase through reduction of 5, 10-methylenetetrahydrofolate into 5-methyltetrahydrofolate. Approximately 24 mutations in the MTHFR gene have been identified in people with homocystinuria. Two of the most identified are C677T (rs1801133) and A1298C (rs1801131) single nucleotide polymorphisms (SNP). Mutations at C677T and A1298C which confer amino acid substitution Ala222Val and Glu429Ala respectively with reduced activity. So this polymorphism and mild hyperhomocysteinemia are associated with neural tube defects in offspring, arterial & venous thrombosis, and cardiovascular disease etc. The MTHFR gene could be one of the factors of overall schizophrenia risk. Bioinformatics analysis was performed to predict the homologues relationship. The phylogenetic analysis of MTHFR was performed against ten taxa by using Mega4 software.