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Detection of disease-associated microRNAs - application for autism spectrum disorders
Barbora Konečná1, Jana Radošinská2,3, Petra Keményová2
1Institute of Molecular Biomedicine, Faculty of Medicine, Comenius University in Bratislava, 811 08 Bratislava, Slovakia.
Abstract:
Autism spectrum disorders (ASD) diagnostic procedure still lacks a uniform biological marker. This review gathers the information on microRNAs (miRNAs) specifically as a possible source of biomarkers of ASD. Extracellular vesicles, and their subset of exosomes, are believed to be a tool of cell-to-cell communication, and they are increasingly considered to be carriers of such a marker. The interest in studying miRNAs in extracellular vesicles grows in all fields of study and therefore should not be omitted in the field of neurodevelopmental disorders. The summary of miRNAs associated with brain cells and ASD either studied directly in the tissue or biofluids are gathered in this review. The heterogeneity in findings from different studies points out the fact that unified methods should be established, beginning with the determination of the accurate patient and control groups, through to sample collection, processing, and storage conditions. This review, based on the available literature, proposes the standardized approach to obtain the results that would not be affected by technical factors. Nowadays, the method of high-throughput sequencing seems to be the most optimal to analyze miRNAs. This should be followed by the uniformed bioinformatics procedure to avoid misvalidation. At the end, the proper validation of the obtained results is needed. With such an approach as is described in this review, it would be possible to obtain a reliable biomarker that would characterize the presence of ASD.
Insights
Autism spectrum disorder (ASD) diagnosis needs better biomarkers. This review highlights microRNAs (miRNAs) within extracellular vesicles as promising ASD biomarkers, proposing standardized methods for reliable detection.
Area of Science:
- Neurodevelopmental Disorders
- Molecular Biology
- Biomarker Discovery
Background:
- Autism spectrum disorder (ASD) diagnosis currently lacks a definitive biological marker.
- MicroRNAs (miRNAs) within extracellular vesicles (EVs), including exosomes, are emerging as potential cell-to-cell communicators and disease indicators.
- Research into miRNAs in EVs is expanding across scientific fields, including neurodevelopmental disorders.
Purpose of the Study:
- To review and synthesize current information on miRNAs as potential biomarkers for ASD.
- To identify challenges and propose standardized methodologies for reliable miRNA biomarker discovery in ASD.
- To emphasize the role of extracellular vesicle-derived miRNAs in neurodevelopmental disorder research.
Main Methods:
- Comprehensive literature review of studies investigating miRNAs in brain tissue and biofluids related to ASD.
- Analysis of existing findings on miRNAs associated with brain cells and ASD.
- Proposal of a standardized workflow for sample collection, processing, storage, and analysis.
Main Results:
- Heterogeneity in current findings necessitates standardized methods for consistent results.
- High-throughput sequencing is identified as an optimal method for miRNA analysis.
- Standardized bioinformatics and validation procedures are crucial for avoiding misvalidation.
Conclusions:
- MicroRNAs encapsulated in extracellular vesicles represent a promising avenue for ASD biomarker development.
- Establishing uniform methodologies, from patient stratification to data analysis, is essential for reliable biomarker identification.
- A standardized approach can lead to the discovery of robust biomarkers for characterizing ASD presence.
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