HCAR3 May Mediate Autism Symptoms: Evidence From RNA-Sequencing of Peripheral Blood Mononuclear Cells

Area of Science:

• Neuroscience
• Genetics
• Immunology

Background:

• Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder.
• Currently, no effective treatments or reliable diagnostic biomarkers exist for ASD.

Purpose of the Study:

• To compare gene expression profiles in children with ASD and typically developing children.
• To identify and validate differentially expressed genes (DEGs) as potential pathophysiological markers for ASD.

Main Methods:

• Gene expression profiling in children with ASD and controls.
• Identification and validation of differentially expressed genes (DEGs).
• Gene ontology and pathway analysis (Kyoto Encyclopedia of Genes and Genomes).

Main Results:

• Identified 35 down-regulated and 21 up-regulated DEGs.
• DEGs are primarily involved in signaling and immunity pathways.
• Hydroxycarboxylic acid receptor 3 (HCAR3) and TNFSF15 were associated with ASD; HCAR3 validated as a potential risk gene.

Conclusions:

• Abnormal expression of signaling and immune-related genes is observed in children with ASD.
• HCAR3 plays a critical role in the ASD phenotype.
• Findings suggest HCAR3 as a promising candidate for ASD diagnostic biomarker development.