Analyzing the Expression and Function of Autism-associated Genes Throughout the Brain

Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental conditions, affecting approximately 1 in 54 children. Due to the complexity of the disorder, the pathogenesis of ASD is multifaceted. Pre-existing research has linked many genes to ASD; however, the mechanisms by which these genes contribute to ASD are not always clear. This study aims to identify similarities between ASD related genes. By analyzing their similarities in expression in the cerebellum, hippocampus, and prefrontal cortex, this study identifies a brain region with the highest expression of autism-associated genes. TSC1, SHANK2, TAOK1, and CHD8 are genes that were chosen to analyze as they are high confidence ASD genes. Phase 1 includes gathering information from published literature on how the genes cause ASD. Phase 2 and 3 use RNA sequencing databases to analyze the percent expression of the genes in the cerebellum, hippocampus, and prefrontal cortex. It was found that cerebellar purkinje neurons have the highest expression (84.24%) of the selected autism-associated genes. Additional research is needed to better understand how autism-associated genes affect brain functions, so identifying regions like this may be promising targets which can lead to the treatment of ASD.