Neural Tube Defects: A Review on Maternal Genetic Determinants

Neural Tube Defects, resulting from the failure in the closure of the neural tube, have been found to be one of the major causes of mortality and morbidity in the infants and have a variable worldwide incidence rate. Various debatable theories suggest different models for the process of the formation of the neural tube or neurulation, resulting in different types of NTDs. NTDs are an outcome of the association of environmental, nutritional and genetic factors and their various interactions. The environmental and nutritional factors are mainly associated with maternal risk, while genetic factors can be both maternal and embryonic origin. Studies have shown strong association of genetic alterations in the metabolic pathway genes, embryonic transcription factor genes and developmental pathway genes with NTDs. Very few studies have focused on the genetic risk predisposed in the mothers of the affected pregnancies. The candidate genes studied as maternal risk have been derived from mainly one carbon metabolism or mouse mutants for NTDs