Cerebral blood flow changes and their genetic mechanisms in Autism spectrum disorder: a combined neuroimaging and transcriptome study

Motivation: Investigating genetic mechanisms underlying cerebral blood flow (CBF) changes in Autism Spectrum Disorder (ASD) to uncover brain pathophysiology and potential therapeutic targets through integrated neuroimaging and transcriptome data. Goal(s): To identify genes linked to CBF alterations in ASD, enhancing understanding of neuropathology and supporting targeted interventions. Approach: Neuroimaging and transcriptome analyses of ASD and typically developing children were mapped to gene expression patterns associated with CBF, with functional insights from the Allen Human Brain Atlas. Results: Distinct CBF patterns and gene expression changes in ASD revealed pathways in ion transport and neuronal signaling, suggesting genetic bases for CBF disruptions. Impact: This study highlights specific genetic targets involved in ASD-related CBF abnormalities, guiding future research into therapeutic strategies. Insights into these mechanisms could support novel interventions tailored to address the unique brain perfusion profiles observed in individuals with ASD.