Poor Mitochondrial Reponses to Oxidative Stress in a Subset of Autism Spectral Disorder Patients

Over the past decade, there has been a 10X rise in the prevalence of autism spectrum disorder (ASD) from 0.2% to 2% of the U.S. population of school age children. With this rise in ASD has come an interest in identifying both the causation and biomarkers for ASDs. Primary fibroblasts from ASD-postive and ASD-negative patients were differentiated into cortical neurons and were either left unexposed or exposed to 800 uM hydrogen peroxide for 17 hours prior to RNA extraction. RNAseq was performed to test whether poor response to H2O2 could be associated with gene expression. Used RNA-sequencing to explain the inability to repair mtDNA damage in ASD-positive patients on a transcriptomic level using an Illumina NextSeq 550. Undifferentiated and untreated fibroblasts from two patients were also sequenced to ensure successful differentiation to neurons.