Evaluation of MTHFR genetic polymorphism as a risk factor in Egyptian autistic children and mothers

Autistic spectrum disorders (ASD) is now considered a multifactorial neurodevelopmental disorder, with increasing prevalence worldwide. Many evidences had showed a role of disturbed folate metabolism in increasing risk for autism, with methylenetetrahydrofolate reductase (MTHFR) being a pivotal enzyme controlling it. This study aims at examining two polymorphisms in MTHFR gene as they are linked to decreased enzyme activity. MTHFR C677T and A1298C polymorphisms are studied in Egyptian ASD children and their mothers in addition to control group. We examined MTHFR 677 C/T and 1298 A/C in 24 autistic children and their mothers and 30 control children and 42 control mothers. Genotype frequency of MTHFR 1298 AC/CC is significantly higher in autistic children; compared to controls. It was also significantly higher in autism mothers compared to control mothers with 3.2, and 2.1 increased fold risk for MTHFR 1298 AC, and AC+CC genotypes, respectively. No significant changes in C677T genotyping was found in neither autism children nor their mothers. Conclusion: These data supports an increased risk for ASD in association with MTHFR 1298 AC/CC polymorphism and hence a role of folate/methylation cycle disturbances is suspected in autism.