Differential gene expression reveals neurodegeneration pathways in children with autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects children worldwide. Its etiology is characterized by the complex interplay of environmental, immunological, and genetic factors. High-throughput RNA sequencing is useful for investigating gene expression patterns in ASD. In this study, RNA from peripheral blood samples of 60 children with ASD was sequenced using the Illumina next-generation sequencing platform; of these, 46 samples were analyzed using PacBio Revio long-read sequencing. Data were aligned to the hg38 Gencode reference genome, and differentially expressed genes were identified by comparing them with publicly available RNA sequencing datasets from neurotypical individuals. KEGG pathway enrichment analysis highlighted the significant involvement of differentially expressed genes in the neurodegeneration–multiple diseases pathway. These findings highlight the complex genetic and biochemical networks underlying ASD. Understanding these pathways may contribute to the identification of early diagnostic biomarkers, inform novel interventions, and improve the quality of life for children with ASD.