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Published on: October 17, 2025
Aberrant expression of long noncoding RNAs in autistic brain
1Laboratory of Clinical and Developmental Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20814, USA. ziatsm@mail.nih.gov
Journal of Molecular Neuroscience : MN
|September 6, 2012
Summary
Investigating long noncoding RNAs (lncRNAs) in autism spectrum disorder (ASD) brain tissue revealed over 200 differentially expressed lncRNAs. These findings suggest lncRNAs may contribute to ASD
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Autism spectrum disorders (ASD) have a strong genetic basis, but the specific genetic causes remain complex and diverse.
- Previous studies identified aberrant protein-coding gene expression in ASD brains, suggesting convergence on common molecular pathways.
- The role of regulatory noncoding RNAs, particularly long noncoding RNAs (lncRNAs), in ASD pathogenesis is largely unexplored.
Purpose of the Study:
- To investigate the potential role of aberrant long noncoding RNA (lncRNA) expression in the molecular pathogenesis of autism spectrum disorder (ASD).
- To profile and compare lncRNA and mRNA expression in postmortem brain tissue from individuals with and without ASD.
Main Methods:
- Microarray analysis was used to profile over 33,000 annotated lncRNAs and 30,000 mRNA transcripts.
- Postmortem brain tissue samples from the prefrontal cortex and cerebellum of autistic and control individuals were analyzed.
- Differential expression analysis was performed for both lncRNAs and mRNAs.
Main Results:
- Over 200 differentially expressed lncRNAs were identified in the autistic brain tissue.
- These differentially expressed lncRNAs were enriched in genomic regions associated with neurodevelopment and psychiatric diseases.
- Transcriptional homogeneity was observed in both mRNA and lncRNA expression patterns between brain regions in ASD individuals compared to controls.
Conclusions:
- Aberrant expression of long noncoding RNAs (lncRNAs) may play a significant role in the molecular pathology of autism spectrum disorder (ASD).
- Further research into lncRNA expression in the autistic brain is warranted to better understand the disorder's pathogenesis.
- The findings highlight lncRNAs as potential targets for future investigation in ASD research.
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01:19Autism 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.
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