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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.
Abstract:
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. Owing to the difficulty of clinical diagnosis, ASD without intellectual disability (i.e., high-functioning ASD) is often overlooked. MicroRNAs (miRNAs) have been recently recognized as potential biomarkers of ASD as they are dysregulated in various tissues of individuals with ASD. However, it remains unclear whether miRNA expression is altered in individuals with high-functioning ASD. Here, we investigated the miRNA expression profile in peripheral blood from adults with high-functioning ASD, and age and gender-matched healthy controls. We identified miR-6126 as being robustly down-regulated in ASD and correlated with the severity of social deficits. Enrichment analysis of predicted target genes revealed potential association with neurons, synapses, and oxytocin signaling pathways. Our findings may provide insights regarding the molecular clues for recognizing high-functioning ASD.
Insights
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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