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Regulatory Functions of Long Non-coding RNAs and Circular RNAs in the Molecular Pathogenesis of Autism Spectrum Disorder.

Cellular and molecular neurobiology2025

Song Juhyun, Kim Young-Kook

What this study means for families

This research review looks at special molecules called RNAs that help control how genes work in autism. Scientists have found that these molecules work differently in people with autism, affecting brain development and how brain cells communicate. While this research is promising for understanding autism better, more studies are needed before it can help with diagnosis or treatment.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Research summary

This review examines the role of long non-coding RNAs (lncRNAs) and circular RNAs (circRNAs) in autism spectrum disorder (ASD) pathophysiology. The authors synthesize current evidence from genetic studies identifying ASD-associated variants in non-coding regions, expression analyses showing dysregulation in brain tissue and blood, and mechanistic studies demonstrating involvement in neuronal development and synaptic function. While substantial progress has been made in understanding these regulatory molecules, their precise contributions to ASD remain incompletely characterized. The review highlights the need for further research to clarify complex regulatory interactions before these findings can be translated into diagnostic biomarkers or therapeutic interventions.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Key findings

  • 1

    Long non-coding RNAs and circular RNAs show dysregulation in brain tissue and peripheral blood of individuals with ASD

    Confidence: moderateRelevance: May inform future biomarker development for ASD diagnosis
  • 2

    ASD-associated genetic variants have been identified in non-coding RNA regions

    Confidence: moderateRelevance: Provides genetic evidence linking non-coding RNAs to ASD susceptibility
  • 3

    Non-coding RNAs are involved in neuronal differentiation, synaptic function, and gene regulatory networks relevant to ASD

    Confidence: moderateRelevance: Helps explain biological mechanisms underlying ASD symptoms

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Clinical implications

While promising for understanding ASD biology, translation to clinical practice requires substantial additional research. The findings may eventually contribute to diagnostic biomarker development and targeted therapies, but current evidence is insufficient for immediate clinical application.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Limitations

This is a review paper synthesizing existing research rather than presenting new data. The authors acknowledge that precise contributions of non-coding RNAs to ASD pathophysiology remain incompletely characterized, indicating significant knowledge gaps in the field.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Original abstract

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic basis. There is increasing evidence that long non-coding RNAs (lncRNAs) and circular RNAs (circRNAs) play key roles in ASD pathophysiology. This review examines current findings regarding these non-coding RNAs, including genetic studies that have identified ASD-associated variants in non-coding regions; expression analyses that have revealed their dysregulation in brain tissue and peripheral blood; and mechanistic investigations that have demonstrated their involvement in neuronal differentiation, synaptic function, and gene regulatory networks. Despite substantial progress, the precise contributions of lncRNAs and circRNAs to ASD have not been fully characterized.

Further research is required to elucidate their complex regulatory interactions, which may ultimately facilitate the development of novel diagnostic biomarkers and targeted therapeutic strategies for ASD.

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Evidence Grade

Emerging

emerging

Grade assigned by AutismInsights based on study type and published abstract.

Study Details

Type
Review
Journal
Cellular and molecular neurobiology
Year
2025
PMID
41307739
DOI
10.1007/s10571-025-01638-x

MeSH Terms

HumansRNA, CircularAutism Spectrum DisorderRNA, Long NoncodingAnimalsGene Regulatory NetworksGene Expression Regulation