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MicroRNA profiling in adults with high-functioning autism spectrum disorder
Masatoshi Nakata1, Ryo Kimura2, Yasuko Funabiki3,4
1Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, 606-8501, Japan.
Molecular Brain
|October 23, 2019
Summary
This study found miR-6126 is down-regulated in adults with high-functioning autism spectrum disorder (ASD). Lower miR-6126 levels correlate with social deficits, suggesting it may be a biomarker for this neurodevelopmental disorder.
Area of Science:
- Neuroscience
- Genetics
- Biomarkers
Background:
- Autism spectrum disorder (ASD) presents diagnostic challenges, particularly for high-functioning individuals.
- MicroRNAs (miRNAs) are implicated as potential biomarkers due to dysregulation in ASD.
- The role of miRNA expression in high-functioning ASD remains under-investigated.
Purpose of the Study:
- To investigate miRNA expression profiles in adults with high-functioning ASD.
- To identify potential miRNA biomarkers for high-functioning ASD.
- To explore the molecular pathways associated with identified miRNAs.
Main Methods:
- Peripheral blood samples were collected from adults with high-functioning ASD and matched healthy controls.
- MicroRNA (miRNA) expression profiling was performed.
- Statistical analysis identified differentially expressed miRNAs and correlated them with clinical severity.
Main Results:
- miR-6126 was significantly down-regulated in adults with high-functioning ASD compared to controls.
- Down-regulation of miR-6126 correlated with the severity of social deficits.
- Enrichment analysis suggested target genes are involved in neuronal and synaptic functions, including oxytocin signaling.
Conclusions:
- miR-6126 may serve as a potential biomarker for high-functioning ASD.
- Altered miR-6126 expression is linked to social communication deficits in ASD.
- These findings offer molecular insights for identifying high-functioning ASD.
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