Immune signature of gene expression pattern shared by autism spectrum disorder and Huntington's disease

Abstract

Autism spectrum disorder (ASD) and Huntington's disease (HD) are complex neurological conditions with unclear causes and limited treatments, affecting individuals, families, and society. Despite ASD and HD representing two opposing stages of neuronal development and degeneration, they share similar clinical-pathological features in motor function. In this study, we leveraged transcriptomic data from the prefrontal cortex available in public databases to identify shared transcriptional characteristics of ASD and HD. Differential expression analysis revealed that the majority of differentially expressed genes (DEGs) were up-regulated in ASD carriers, whereas most DEGs were down-regulated in HD carriers. Among the DEGs shared between both diseases, three out of seven protein-coding genes were related to the immune system. Furthermore, we identified two enriched pathways shared between ASD and HD DEGs. The gene interaction network analysis unveiled four hub genes shared by both diseases, all of which are associated with immune functions. The findings suggest a shared gene expression pattern in the prefrontal cortex of people with ASD and HD, closely linked to the immune system. These findings will contribute to exploring the biological mechanisms underlying the shared phenotypes of these two diseases from an immunological perspective.

Keywords

• Autism spectrum disorder
• Huntington's disease
• Gene expression
• Pathway
• Immunity