Exploration of methylenetetrahydrofolate reductase gene polymorphisms and preliminary links to neurodevelopmental disorders

Abstract

The methylenetetrahydrofolate reductase (MTHFR) gene encodes an enzyme involved in folate metabolism, specifically the production of 5-methyltetrahydrofolate — the metabolically active form of folate, a crucial nutrient for fetal development. Mutations in the MTHFR gene lead to folate deficiency, which contributes to multiple developmental complications, such as neural tube development deficits. Preliminary research shows a correlation between MTHFR polymorphisms and the onset of neurodevelopmental disorders, more specifically Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD). These disorders can impact an individual's ability to perform daily activities, such as work and maintaining social relationships. This thesis explores the biochemical, genetic, and physiological mechanisms for MTHFR polymorphisms, as well as directing future research towards investigating a causal relationship through transgenic models in mice as well as the possible therapeutic benefits of 5-MTHF supplementation. Continued investigation into the relationship between MTHFR polymorphisms and neurodevelopmental disorders can further inform targeted interventions.