Impact of MTHFR and RFC-1 gene in the development of neural tube defect

Neural tube defects (NTDs) are complex problem of central nervous system including brain and spinal cord. Anencephaly and myelomeningocele are the two most common forms of NTDs. Epidemiological studies reveal that genetic and environmental factors are responsible for the development of NTDs. During embryogenesis large numbers of extrinsic and intrinsic factors are responsible for the closure of neural tube which is responsible to maintain the three germ layers including neural ectoderm. The role of MTHFR and RFC-1 gene in etiopathology of NTDs has not been clearly defined in Indian population. Hence, the curiosity has been developed with the aim to evaluate folate metabolism and folate regulatory gene in clinically diagnosed NTDs by using PCR based DNA analysis with selected specific forward/reverse primers. Interestingly, the highest frequency (12.5%) of CT has been appeared of MTHFR C677T gene noticed in NTDs mother. We also observed the similar frequency of heterozygous AG genotype in NTDs of A80G RFC-1 gene. Therefore, C and A allele have high prevalence among than other genotype. However, the mutation in MTHFR partially have protective effect of embryo and these selected candidate folate markers are responsible to influence the cells of neural crest confirming the folding of neural tube associated with severity of disease in NTDs.