Genetic Analysis of Differentially Expressed Genes Associated with the Pathogenesis of Autism Spectrum Disorder

Abstract

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder present at birth and affects 1 in 36 children in the US. It causes symptoms like intellectual disability, lack of communication skills, delayed development of coordination and movement, and more. ASD is a spectrum disorder, and its complexity makes early diagnosis in children difficult as there are no known biomarkers that cause ASD. This project aims to identify genetic factors that may be associated with ASD. By splitting samples in the dataset accessed from the GEO database into a test group with ASD and a control group, this study used a statistical t-test to identify the top 250 differentially expressed genes with p-values < 0.05. These genes were entered in the STRING database to create a map of gene interactions and identify top pathways and biological processes. Analysis of pathways and biological processes led to findings that the differentially expressed gene ARF6 (ADP Ribosylation Factor 6) was active in all three pathways: RAS Signaling, Phospholipase D Signaling, and Salmonella Infection Pathways and played important roles in cellular functions. The experiment validated my hypothesis by providing evidence for a significant difference in gene expressions between ASD individuals and neurotypical individuals. ARF6 was found to be downregulated and involved in pathways and biological processes associated with ASD like immune and cell signaling dysregulation. The implication is If the ARF6 gene factor can be controlled to regulate ARF6 expression, the mutations that contribute to ASD can be suppressed through multiple pathways.