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

Researchers studied blood flow patterns in the brains of 34 autistic children compared to 31 typical children. They found autistic children had different blood flow - higher in some brain areas (like frontal regions) and lower in others (like areas involved in movement and attention). The study also looked at which genes might be linked to these blood flow differences, finding thousands of genes that may play a role in how blood flows differently in autistic brains.

This neuroimaging-transcriptome study examined cerebral blood flow (CBF) patterns in 34 children with autism spectrum disorder compared to 31 typically developing children. Results showed children with ASD had increased CBF in frontal pole, temporal pole, and thalamus regions, but decreased CBF in superior parietal and caudal middle frontal areas. Using the Allen Human Brain Atlas, researchers identified 2,759 genes whose expression correlated spatially with these CBF changes. Functional analysis revealed enrichment in ion transport, adrenergic signaling, and neuronal system pathways.

Notably, down-regulated genes showed significant correlations with gamma-aminobutyric acid (GABA) systems, providing insights into genetic mechanisms underlying altered brain perfusion in autism.

Findings suggest CBF patterns could serve as neurobiological markers in ASD assessment. The identification of GABA-related genetic mechanisms may inform future therapeutic targets. However, clinical applications require validation in larger samples and investigation of how these perfusion patterns relate to specific autism symptoms and functioning.

Small sample size (34 ASD, 31 controls) limits generalizability. Cross-sectional design prevents causal inferences. Gene expression data from adult brains may not fully represent pediatric populations studied. Methodology for transcriptome-neuroimaging correlation requires validation.

Autism spectrum disorder (ASD), a disorder with high heritability, is linked to abnormal cerebral blood flow (CBF) in patients. The present study focuses on exploring the genetic mechanisms behind CBF in ASD. A total of 34 children with ASD and 31 typically developing (TD) children were examined to find the inter - group differences in CBF. In combination with the Allen Human Brain Atlas (AHBA), an analysis of transcriptome - neuroimaging spatial association was carried out.

This was done to identify genes whose expression was related to CBF changes in ASD, and then gene function characteristics were analyzed. In comparison with TD children, children with ASD had elevated CBF values in the frontal pole, temporal pole, and thalamus, while having lower CBF values in the superior parietal and caudal middle frontal regions. There were 2,759 genes whose expression was spatially correlated with the CBF changes. Functions such as "Inorganic ion transmembrane transport", "adrenergic signaling in cardiomyocytes", and "neuronal system" were significantly enriched.

Significantly down - weighted genes had significant correlations with gamma - aminobutyric acid in the AHBA - seq and DrONc - seq databases. The transcription - neuroimaging associations arising from cerebral perfusion redistribution in ASD are supplemented in an additional way, which helps in enhancing the understanding of the ASD brain.