A review on genetic polymorphism in MTHFR gene with Down syndrome and leukemia

Abstract Down syndrome (DS), also called trisomy 21, has been predicted as leukemia endorsing syndrome. Due to the presence of notable clinical conditions, difference in treatment responses are noticed in patients with DS compared to without DS. Methylenetetrahydrofolatereductase (MTHFR) gene polymorphism has been witnessed in DS, leukemia and various genetic disorders/diseases. Particularly, C677T and A1298C polymorphism in MTHFR gene, which is responsible for the folate metabolism, lead to reduced enzyme activity and thus accumulate the methy-THF. It has been noticed that the polymorphism had impact on the genomic instability that causes leukemia. In the present review, —, we — are bring together the significance of genotypes of MTHFR gene and its relationship in DS and Leukemia patients as risk factor. It unravel the genotypes importance in disease diagnosis as well as polymorphism based therapeutic managements.