Samira Ismail1, Azza Abo Senna2, Eman G Behiry2, Engy A Ashaat1, Maha S Zaki1, Neveen A Ashaat3, Dina M Salah2. 1. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. 2. Clinical and Chemical Pathology Department, Faculty of Medicine, Benha University, Benha, Egypt. 3. Genetics-Zoology Department, Faculty of women for science, Ain Shams University, Cairo, Egypt.
Abstract
BACKGROUND: 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. Methylene tetrahydrofolate reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR gene C677T variant accounted as a risk factor of autism. OBJECTIVE: The present study aimed to investigate the association of MTHFR gene rs1801133(C677T) variant 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 genetic variant, 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 gene (C667T) variant with the increased risk for ASD.
BACKGROUND: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. Methylene tetrahydrofolate reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR gene C677T variant accounted as a risk factor of autism. OBJECTIVE: The present study aimed to investigate the association of MTHFR gene rs1801133(C677T) variant among Egyptian autisticchildren. METHODS: The study included 78 autisticchildren, and 80 matched healthy control children. Full clinical and radiological examinations were conducted. MTHFR genetic variant, 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 autisticpatients 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 gene (C667T) variant with the increased risk for ASD.