Association of MTHFR gene polymorphism and serum folate level with neural tube defects among neonates in Duhok city

Neural tube defects are a group of conditions in which an opening in the spinal cord or brain remains from early in human development. Besides the role of folic acid, a number of maternal factors have also been found implicated in the etiology of NTD, particularly hyperthermia, diabetes, hyperinsulinemia, obesity. Some mutations in MTHFR gene are associated with methylenetetrahydrofolatereductase deficiency.The best-characterized MTHFR genetic polymorphism is a common missense mutation consisting of 677 C→T transition, resulting in thermolabile enzyme variant that has reduced catalytic activity.The methylenetetrahydrofolatereductase (MTHFR) C677T mutation polymorphism was studied using RFLP method. The PCR amplified products were cut using polymerase chain reaction-restriction fragment length polymorphism with specific primers and digestion of the amplified products with HinfI restriction enzyme. The current study recruited (31) Neural tube defects patients (infants/child), with their corresponding (30) fathers and (32) mothers in Duhok City. The majority of the infants/child involved in the study were female (16, 56.1%) Twenty four (24, 77.41%) of the NTD patients were positive MTHFR 677C→T mutation,of the Neural tube defects patients were positive methylenetetrahydrofolatereductase (MTHFR) 677C→T mutation, most of them were heterozygous type (18, 75%), while (6, 25%) were homozygous. According to the results extracted based on the available data it was found that the Neural Tube Defect disease in infants/children could not be attributed to MTHFR 677 C→T mutation neither to the estimated levels of the serum folate(Fisher`s exact test, p=0.227).