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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

2.0K
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.
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Updated: May 5, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

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An Integrative Network Analysis Framework for Identifying Altered Glycosylation Pathways Associated with Autism

Anup Mammen Oommen1,2, Marie Morel3, Stephen Cunningham1,2

  • 1Glycoscience Research Cluster (AGRC), University of Galway, Biomedical Sciences, H91 W2TY Galway, Ireland.

Genes
|May 4, 2026
PubMed
Summary
This summary is machine-generated.

Disruptions in glycosylation, a key cellular process, are linked to Autism Spectrum Disorder (ASD) pathophysiology. This study identifies a glyco-immune axis and potential therapeutic targets for ASD.

Keywords:
LD analysiscomplex disorderseQTLsglycosylationinflammatory pathwaysmolecular functionnetwork analysisneurobehavioral symptomsneurological functionsvariant-gene association

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Area of Science:

  • Neuroscience
  • Immunology
  • Genetics
  • Systems Biology

Background:

  • Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with complex symptoms and comorbidities like immune dysfunction.
  • Glycosylation, a vital post-translational modification, is implicated in cellular communication and immune responses, but its role in ASD is not well understood.

Purpose of the Study:

  • To investigate glycosylation-related gene expression changes and their functional associations in Autism Spectrum Disorder (ASD).
  • To explore the potential role of a glyco-immune axis in ASD pathophysiology.

Main Methods:

  • Developed an integrative transcriptomic and network analysis framework using bulk and single-cell RNA sequencing data from brain and blood tissues.
  • Focused on four gene subsets: glycogenes, extracellular matrix glycoproteins, immune response genes, and autism risk genes.
  • Performed differential expression, pathway enrichment, network, and linkage disequilibrium analyses.

Main Results:

  • Consistent dysregulation of glycosylation pathways (e.g., O-glycan biosynthesis, sialylation) observed across ASD tissues.
  • Transcriptional changes linked to altered immune signaling (IL-17, TLR, complement) and synaptic development, forming a glyco-immune axis.
  • Identified key glycogenes (GALNT10, NEU1, LMAN2L, CHST1) as central nodes interacting with immune and neuronal regulators; ASD-associated SNPs affect their expression.

Conclusions:

  • Disrupted glycosylation contributes to ASD pathophysiology by mediating immune dysregulation and altered neuronal connectivity.
  • Highlights glycogenes as potential biomarkers and therapeutic targets for Autism Spectrum Disorder.
  • Provides a systems-level framework for understanding ASD molecular complexity.