Gene Expression Profiling of Myelination and Degradation Pathways in MS Lesions: A Bioinformatics Approach (PP-19)

Background: Multiple sclerosis (MS) is a chronic neurodegenerative disease, characterized by demyelination and consequent axonal loss within the central nervous system (CNS). The objective of this study was to identify the molecular pathways responsible for myelin formation and degradation in MS through a comprehensive analysis of gene expression profiles.
Methods: This study utilized publicly available gene expression datasets (GSE174647, GSE255290) to conduct a differential analysis focusing on myelination processes within CNS lesions of MS patients. The approach included standard RNA-seq data processing steps: quality control, mapping normalization, and differential expression analysis. Additionally, Gene Ontology (GO) and KEGG pathway enrichment analyses were employed to elucidate the functional significance of the dysregulated genes identified.
Results: The analysis revealed significant alterations in the genetic composition of MS lesions, particularly in genes associated with myelination, oligodendrocyte development, and axon guidance. Notably, genes such as GJB1, LPAR1, CYP51A1, SCN2A, and MOG exhibited considerable changes in expression. These genes are critical for diverse functions, including cell-cell adhesion (GJB1), lipid signaling (LPAR1), steroid biosynthesis (CYP51A1), neuronal excitability (SCN2A), and myelin formation (MOG). These findings suggest that disruptions in these cellular processes significantly contribute to the demyelination and neurodegeneration characteristic of MS.
Conclusion: This study highlights novel insights into the molecular mechanisms underlying myelin formation and destruction in MS. Identifying gene modifications, particularly those involving GJB1, LPAR1, CYP51A1, SCN2A, and MOG, may lead to the development of new therapeutic strategies aimed at promoting remyelination and preventing neuronal damage. Further research is necessary to fully elucidate the functional interactions of these genes in MS pathophysiology.