Bioinformatics Analysis of Metabolic Gene Dysregulation in Multiple Sclerosis Brain Tissue (PP-17)

Background: While immune dysfunction is a well-known contributor to Multiple Sclerosis (MS), recent evidence indicates that metabolic disturbances, particularly in glucose and lipid metabolism, significantly influence the disease's progression. The brain's high energy demands make it particularly susceptible to metabolic imbalances. Exploring these alterations in metabolic pathways within brain tissue could offer deeper insights into the pathophysiology of MS and reveal novel therapeutic targets.
Methods: In this study, a comprehensive bioinformatics approach was utilized to investigate the dysregulation of genes related to glucose and lipid metabolism in MS brain tissue. Publicly available RNA-seq datasets (GSE100297, GSE111972, GSE123496, GSE137619) were employed. The analysis pipeline included rigorous quality control measures, sequence alignment, and differential expression analysis executed via DESeq2. Furthermore, functional enrichment analysis was conducted to discern the metabolic pathways significantly altered in MS brains.
Results: The analysis identified significant dysregulation of several key genes involved in glucose and lipid metabolism within the brain tissue of MS patients. Notably, genes such as APOE, CPT1A, FABP4, PPARG, and SREBF1 showed altered expression levels. These dysregulated genes are primarily associated with pathways involved in energy production, fatty acid oxidation, and insulin resistance.
Conclusion: This study underscores the significant dysregulation of glucose and lipid metabolism in the brain tissue of MS patients, particularly highlighting genes such as APOE, CPT1A, FABP4, PPARG, and SREBF1. These genes offer valuable insights into the metabolic aspects of MS pathogenesis and hold potential as biomarkers or therapeutic targets. However, further experimental validation is necessary to confirm their clinical relevance.