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Related Experiment Video

Updated: Mar 14, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism.

Xiling Liu^1,2,3, Dingding Han¹, Mehmet Somel^1,4

¹CAS Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai, China.

|September 30, 2016

Summary

This study reveals a unique gene expression pattern in autism spectrum disorder (ASD) brains, linked to human-specific brain development and genetic autism risk factors.

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Strategies for Assessing Autistic-Like Behaviors in Mice

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Published on: September 20, 2024

Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

Autism spectrum disorder (ASD) is characterized by cognitive defects impacting socialization and communication.
Understanding the molecular basis of these defects is crucial for identifying therapeutic targets.

Purpose of the Study:

To analyze gene expression patterns in the prefrontal cortex of individuals with ASD and compare them with non-human primates.
To identify specific molecular pathways and developmental programs disrupted in ASD.

Main Methods:

Gene expression analysis in the prefrontal cortex of human patients with ASD, control individuals, chimpanzees, and macaques.
Analysis of gene expression from natal to adult stages.
Integration of genetic variant data with expression patterns.

Main Results:

A single aberrant gene expression pattern, enriched in synaptic-related genes and autism-linked nucleotide variants, was identified in ASD brains.
This pattern exhibits developmental expression features unique to humans, disrupting human-specific cortical development.
Early growth response (EGR) transcription factors may regulate this aberrant developmental change.

Conclusions:

The study links the genetic risk architecture of autism to molecular features of human-specific cortical development.
Disruption of human-specific developmental programs is a key feature of ASD at the molecular level.
This finding provides novel insights into the neurobiological underpinnings of autism.