A Combined Proteomics and Metabolomics Profiling to Investigate the Genetic Heterogeneity of Autistic Children

Autism spectrum disorder (ASD) has become one of the most common neurological developmental disorders in children. However, the study of ASD diagnostic markers faces significant challenges due to the existence of heterogeneity. In this study, genetic testing was performed on children who were clinically diagnosed with ASD. Children with ASD susceptibility genes and healthy controls were studied. The proteomics of plasma and peripheral blood mononuclear cells (PBMCs) as well as plasma metabolomics were carried out. The results showed that although there was genetic heterogeneity in children with ASD, the differentially expressed proteins (DEPs) in plasma, peripheral blood mononuclear cells, and differential metabolites in plasma could still effectively distinguish autistic children from controls. The mechanism associated with them focuses on several common and previously reported mechanisms of ASD. The biomarkers for ASD diagnosis could be found by taking differentially expressed proteins and differential metabolites into consideration. Integrating omics data, glycerophospholipid metabolism and N-glycan biosynthesis might play a critical role in the pathogenesis of ASD.

Automated summary

This study conducted genetic testing and biomarker analysis in children with ASD, finding that the differential expressions of proteins and metabolites in plasma and PBMCs could effectively distinguish autistic children from healthy controls. Mechanistic analysis suggested that glycerophospholipid metabolism and N-glycan biosynthesis might play critical roles in the pathogenesis of ASD.