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Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

Cell Specific Gene Expression

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...

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Related Experiment Video

Updated: Sep 21, 2025

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

Shared and Cell-Type-Specific Gene Expression Patterns Associated With Autism Revealed by Integrative Regularized

Jinting Guan^1,2, Yan Zhuang¹, Yue Kang¹

¹Department of Automation, Xiamen University, Xiamen, China.

Frontiers in Genetics

|June 1, 2022

Summary

Autism spectrum disorder (ASD) affects brain cells differently across types. This study identified shared and cell-type-specific gene modules linked to ASD, revealing common synaptic and distinct neuronal dysregulations.

Keywords:

ASD cell-type-specific gene module gene function integrative regularized non-negative matrix factorization shared gene module

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Area of Science:

Neuroscience
Genetics
Computational Biology

Background:

Human brain disorders like autism spectrum disorder (ASD) exhibit significant cell heterogeneity.
Understanding cell-type-specific gene expression is crucial for dissecting ASD's complex molecular mechanisms.

Purpose of the Study:

To identify shared and cell-type-specific gene modules associated with ASD.
To investigate commonalities and specificities in gene dysregulation across different brain cell types in ASD.

Main Methods:

Developed and applied integrative regularized non-negative matrix factorization (iRNMF).
Analyzed human brain cell type gene expression data, integrating ASD risk genes.

Main Results:

Identified shared ASD-associated gene modules primarily related to synaptic function.
Discovered cell-type-specific dysregulations, including in GABAergic interneurons (inhibitory ligand-gated ion channels) and glutamatergic neurons (postsynaptic potentials, glutamate receptor signaling).

Conclusions:

ASD pathogenesis involves both shared and cell-type-specific molecular alterations.
Findings offer insights into ASD's heterogeneity and potential for targeted therapeutic strategies.