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Updated: Sep 5, 2025

Cerebrospinal Fluid MicroRNA Profiling Using Quantitative Real Time PCR
Published on: January 22, 2014
Integrated Analysis and Identification of CSF-Derived Risk miRNAs and Pivotal Genes in Multiple Sclerosis
Yingchao Su1, Zhihui Li2, Xinming Rang1
1Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, Heilongjiang Province, Harbin, 150086, China.
Abstract:
Multiple sclerosis (MS) is a common chronic autoimmune disorder of the central nervous system that predominantly affects young adults. Mounting evidence indicates that deregulation of microRNAs (miRNAs) in cerebrospinal fluid (CSF) has been implicated in MS as a potential biomarker. However, comprehensive assessments of CSF miRNAs and their target genes are lacking. Here, aberrantly expressed CSF miRNAs of MS patients were obtained from numerous studies by manual search. With detailed information on these miRNAs, we utilized online databases to screen out immune-related target genes and further performed Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses. To identify MS high-risk pathways and pivotal genes, pathway crosstalk and pathway-gene networks were constructed, followed by the establishment of a protein-protein interaction (PPI) network. The datasets collected from ArrayExpress were used to assess pivotal genes. Overall, 21 MS-related CSF miRNAs were included in this study. Subsequently, we identified 469 MS-related genes and 14 high-risk pathways. In the pathway-gene network, 27 critical MS-related genes participated in at least half of the high-risk pathways, and these genes were used to identify pivotal genes. Finally, miR-150, miR-328, and miR-34c-5p were determined to be risk miRNAs via the regulation of the pivotal risk genes MAPK1, AKT1, and VEGFA. Among them, VEGFA was validated to be significantly decreased in the CSF cells of MS patients by transcriptomic datasets. These findings may provide potential biomarkers or therapeutic targets and help elucidate the molecular mechanisms underlying the pathogenesis of MS.
Insights
This study identifies key microRNAs (miRNAs) and genes in cerebrospinal fluid (CSF) linked to multiple sclerosis (MS). These findings highlight potential biomarkers and therapeutic targets for MS pathogenesis.
Area of Science:
- Neuroimmunology
- Genomics
- Biomarker Discovery
Background:
- Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system, primarily in young adults.
- MicroRNAs (miRNAs) in cerebrospinal fluid (CSF) are increasingly recognized as potential biomarkers for MS.
- Comprehensive analysis of CSF miRNAs and their target genes in MS is currently lacking.
Purpose of the Study:
- To identify aberrantly expressed miRNAs in the CSF of MS patients.
- To elucidate the target genes, pathways, and molecular mechanisms involved in MS pathogenesis.
- To discover potential diagnostic biomarkers and therapeutic targets for MS.
Main Methods:
- Manual literature search to collect MS-related CSF miRNAs.
- Utilized online databases for screening immune-related target genes.
- Performed Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses.
- Constructed pathway crosstalk, pathway-gene networks, and protein-protein interaction (PPI) networks.
- Validated pivotal genes using transcriptomic datasets from ArrayExpress.
Main Results:
- Identified 21 MS-related CSF miRNAs, 469 MS-related genes, and 14 high-risk pathways.
- Discovered 27 critical MS-related genes involved in high-risk pathways, leading to the identification of pivotal genes.
- Determined miR-150, miR-328, and miR-34c-5p as risk miRNAs regulating pivotal genes MAPK1, AKT1, and VEGFA.
- VEGFA was significantly decreased in CSF cells of MS patients, validated by transcriptomic data.
Conclusions:
- The study identified specific miRNAs (miR-150, miR-328, miR-34c-5p) and genes (MAPK1, AKT1, VEGFA) associated with MS pathogenesis.
- VEGFA's decreased expression in MS patient CSF cells suggests its role in the disease.
- These findings offer potential biomarkers and therapeutic targets for multiple sclerosis.
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