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Published on: October 17, 2025
Transcriptomic Convergence in Autism Spectrum Disorder: Synaptic, Immune-Glial and RNA-Regulatory Axes in the Human
1Munster Technological University, Cork, Ireland.
Summary
Autism spectrum disorder (ASD) transcriptomic studies show no single brain signature. Instead, findings suggest reduced neuronal expression and increased immune activity, with RNA processing also implicated in ASD cortical pathology.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Autism spectrum disorder (ASD) exhibits significant genetic and developmental heterogeneity.
- The convergence of these liabilities on shared molecular pathways in the human cerebral cortex remains unclear.
Purpose of the Study:
- To systematically review human post-mortem cortical transcriptomic studies to determine if ASD heterogeneity converges on shared molecular programs.
- To synthesize evidence regarding transcriptomic signatures in the ASD brain.
Main Methods:
- Systematic database searching of PubMed, Scopus, and Europe PMC from January 2009 to May 2026.
- Narrative synthesis of 43 eligible human post-mortem cortical transcriptomic studies.
- Analysis focused on transcriptomic signatures, RNA processing, and cell-specific alterations.
Main Results:
- No single, invariant cortical transcriptomic signature for ASD was identified.
- Consistent signals indicate reduced neuronal/synaptic expression and increased immune-glial activity.
- Dysregulation of RNA processing, including alternative splicing, is implicated, with abnormalities concentrated in specific neuronal and glial populations.
Conclusions:
- Human cortical transcriptomic studies in ASD support a model of partial, context-dependent convergence on limited biological programs.
- Findings suggest that ASD molecular pathology is not a single, stable lesion but involves complex, non-uniform alterations.
- Limitations include reliance on dataset reuse and regional sampling in much of the existing literature.
