Peripheral blood mononuclear cell proteomic profiling reveals cytoskeletal- and chromatin-associated protein signatures in autism spectrum disorder

Information from the abstract

Purpose We aimed to identify protein patterns in peripheral blood mononuclear cells (PBMCs) associated with autism spectrum disorder (ASD) diagnosis and clinical heterogeneity and to explore their relevance to biological processes implicated in ASD. Methods PBMC proteomic profiles were examined in a Thai cross-sectional cohort of 191 children with ASD and 106 typically developing (TD) controls. Mass spectrometry (LC-MS/MS) was performed to identify differentially expressed proteins (DEPs). Exploratory classification performance was assessed by ROC analysis across clinical subgroups. Associations between DEPs and behavioral and cognitive symptoms were evaluated using mixOmics multivariate integration. DEPs were further assessed for overlap with ASD-associated genes and previously reported ASD blood and brain proteomic datasets, and functionally annotated using protein–protein interaction and enrichment analyses. Results Thirty-nine proteins were differentially expressed between children with ASD and TD controls, while a subset was associated with heterogeneity within ASD. Several DEPs were encoded by known ASD-associated genes and overlapped with proteins previously reported in ASD blood and brain studies. Functional analyses identified enrichment of cytoskeletal and chromatin-associated pathways, including an actin-centered protein interaction network. Multivariate integration analyses revealed associations between these proteins and behavioral, social, emotional, sensory, and cognitive phenotypes, while subgroup analyses indicated subtle molecular heterogeneity within ASD. Conclusion PBMC proteomic profiles identified molecular signatures associated with ASD diagnosis and clinical heterogeneity in this discovery cohort. Exploratory network analyses highlighted cytoskeletal- and chromatin-associated proteins, supporting further evaluation of peripheral proteomics as a tool for investigating ASD biology and biologically informed stratification.

Why this record is monitored

This record has an Impact Signal of 75/100 based on recency, source, collaboration, and bibliographic signals. It prioritizes monitoring and is not a judgment of research quality.

Related topics: Autism Spectrum Disorder Research · Chromatin Remodeling and Cancer · Genetics and Neurodevelopmental Disorders