Molecular and Genetic Mechanisms in Autism Spectrum Disorder.

Scientists have studied hundreds of genes linked to autism and found they often affect similar brain processes. The main areas affected are how brain cells develop and how different types of brain cells (excitatory and inhibitory neurons) work together. Understanding these shared patterns could help researchers develop better treatments for autism in the future.

This comprehensive review examines the molecular and genetic mechanisms underlying autism spectrum disorders (ASDs). The authors analyze findings from large-scale genomic sequencing studies that have identified hundreds of ASD-associated genes. Key insights reveal shared biological pathways across these genes, with particular convergence on neurogenesis (brain cell development) and excitatory-inhibitory neuron development as critical mechanisms. The review highlights how functional analyses of ASD genes are advancing understanding of disease pathophysiology and identifying potential therapeutic targets.

This work represents important progress in translating genetic discoveries into mechanistic insights that could inform future treatment approaches for ASDs.

This research advances understanding of autism's biological basis by identifying shared pathways among diverse genetic causes. The convergence on neurogenesis and neuron development provides specific targets for future therapeutic development, potentially leading to treatments that address core mechanisms rather than just symptoms.

As a review article, findings depend on the quality and scope of included studies. The abstract does not specify selection criteria, number of studies reviewed, or methodological assessment approaches used in the analysis.

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by deficits in social communication and interaction and the presence of repetitive and restricted behaviors. ASDs are clinically and genetically heterogeneous with hundreds of genes identified through large-scale whole exome and genome sequencing studies contributing to risk. Recent studies are beginning to illuminate shared mechanisms across ASD-associated genes at the molecular, cellular, circuit, and behavioral levels, identifying neurogenesis and excitatory-inhibitory neuron development as points of biological convergence. These functional analyses of ASD genes provide substantial promise for gaining a deeper understanding of ASD pathophysiology and elucidating novel therapeutic targets.

ANN NEUROL 2025;98:1163-1177.