Neveen A. Ashaat
Ain Shams University, Egypt
Title: Association of C677T Polymorphism of Methylene Tetrahydrofolate Reductase Gene with ASD Egyptian Children
Biography
Biography: Neveen A. Ashaat
Abstract
Autism Spectrum Disorders (ASD) is a heterogeneous neurodevelopmental disease, various articles reported that dysfunctional folate-methionine pathway enzymes might assume a paramount part in the pathophysiology of autism. Methylenetetrahydrofolate Reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR C677T polymorphism accounted as a risk factor of autism. Objective: The present study aimed to investigate the association of MTHFR rs1801133(C677T) polymorphism among Egyptian autistic children. Methods: The study included 78 autistic children, and 80 matched healthy control children. Full clinical and radiological examinations were conducted. MTHFR polymorphism rs1801133(C677T) was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods followed by direct sequencing technique. Results: MTHFR (C677T) allele frequency was found to be higher significantly in ASD cases compared with nonautistic children. Also, we had a higher distribution of combined CT+TT genotypes among autistic patients with consanguinity and family history of psychological disease. In Gastrointestinal tract (GIT) and sleep disorders showed a higher distribution of hetero CT genotype as well as combined CT+TT genotypes. Conclusion: This study demonstrated a role of MTHFR(C667T) polymorphism with the increased risk for Autism Spectrum Disorders (ASD).