MTHFR Gene Polymorphisms as Potential Risk Factors for Down Syndrome and Its Associated Phenotypes: A Review

Abstract

The present article sheds light on the methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms as potential risk factors for Down syndrome in the backdrop of the available literature.  Ample evidence suggests that polymorphisms in the MTHFR gene, significantly increase the risk of DS by interfering with the metabolism of folate. The MTHFR gene affects homocysteine levels and DNA methylation processes as it codes for an enzyme that is essential to the folate cycle. As mutations in MTHFR gene are linked to incorrect chromosomal segregation during meiosis, trisomy 21 becomes more likely. This review outlines the currently available literature connecting MTHFR gene variants to Down syndrome, emphasizing the potential effects of disturbances in folate metabolism on chromosomal integrity and developmental outcomes. The review also emphasizes the potential for nutritional treatments, such as vitamin B12 and folate supplements to reduce these risks by establishing the metabolic pathways impacted by MTHFR mutations. In conclusion, gaining insights into MTHFR gene's genetic and metabolic roles could help prevent the risk factors associated with Down syndrome and Down syndrome related clinical phenotypes.