Abstract

ROLE /ASSOCIATION OF MTHFR GENE WITH DOWNS SYNDROME

Shubham Anand*, Manoj Kumar Bajhaiya, Sakshi Singh, Aman Sharma, Laksh Kumar, Divyansh Kumar, Hemant Singh Patel, Moulik Choudhary, Dipanshu Kushwaha, Dipanshu Raj

Abstract

Down syndrome (DS) is a chromosomal disorder primarily caused by trisomy 21, with an incidence rate of approximately 1 in 700 live births. Recent research suggests that genetic factors, particularly methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms, play a significant role in increasing the risk of Down syndrome (DS) by disrupting folate metabolism. The MTHFR gene, responsible for encoding an enzyme crucial in the folate cycle, impacts homocysteine levels and DNA methylation processes. Mutations, especially the C677T polymorphism, have been associated with improper chromosomal segregation (nondisjunction) during meiosis, increasing the likelihood of trisomy 21. This review examines the current evidence linking MTHFR gene polymorphisms to Down syndrome (DS), highlighting how disruptions in folate metabolism may influence chromosomal stability and developmental outcomes. Additionally, we explore how nutritional interventions, including folate and vitamin B12 supplementation, could mitigate these risks by restoring biochemical pathways affected by MTHFR mutations. Understanding the genetic and metabolic contributions of the MTHFR gene may offer new perspectives on preventing chromosomal abnormalities linked to DS.

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