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Integrated Approaches to Identify miRNA Biomarkers Associated with Cognitive Dysfunction in Multiple Sclerosis Using
Archana Prabahar1, Kalpana Raja2
1R&D Division, Eriks-Precision Components India Pvt Ltd., Mohali 160055, Punjab, India.
Diagnostics (Basel, Switzerland)
|August 26, 2022
Summary
This study identifies key microRNAs (miRNAs) and genetic risk factors linked to cognitive dysfunction in multiple sclerosis (MS). Findings highlight specific miRNAs and pathways, advancing understanding of MS-related cognitive impairment.
Area of Science:
- Neuroscience
- Genetics
- Immunology
Background:
- Multiple sclerosis (MS) is a chronic autoimmune disease impacting the central nervous system, frequently causing cognitive problems in over half of patients.
- Existing genomic and transcriptomic research on MS cognitive impairment lacks a comprehensive data repository.
- Understanding the genetic basis of MS-related cognitive dysfunction is crucial for developing targeted therapies.
Purpose of the Study:
- To identify microRNA (miRNA) biomarkers for cognitive dysfunction in multiple sclerosis (MS).
- To explore the genomic etiology of MS-related cognitive impairment.
- To integrate text mining, gene regulation, pathway analysis, and genome-wide association studies (GWAS) for comprehensive insights.
Main Methods:
- Utilized text mining (PubTator) and databases (HMDD, miR2Disease, PhenomiR) to identify dysregulated miRNAs in MS and cognitive dysfunction.
- Retrieved and analyzed genome-wide association study (GWAS) signals from GWAS Catalog, including enrichment analysis of association signals in genes/miRNAs.
- Performed pathway analysis on susceptible genetic variants to identify novel risk pathways.
Main Results:
- Identified specific miRNAs, including hsa-mir-148b-3p, hsa-mir-7b-5p, and hsa-mir-7a-5p, commonly associated with MS and cognitive dysfunction.
- Discovered significant genetic risk loci: rs17119 (chromosome 6), rs1843938 (chromosome 7), and rs11637611 (chromosome 15).
- Pathway analysis revealed associations between the ECM receptor signaling pathway and PI3K/Akt signaling pathway with differentially expressed miRNA biomarkers.
Conclusions:
- The study successfully identified potential miRNA biomarkers and genetic risk factors for cognitive dysfunction in multiple sclerosis.
- The findings provide a foundation for understanding the genomic underpinnings of MS-related cognitive impairment.
- Integration of multiple data types offers a comprehensive approach to biomarker discovery in complex neurological disorders.
