Deciphering Genetic Associations: Insights into Common Molecular Pathways in Duchenne Muscular Dystrophy and Cerebral Palsy
This study explores the genetic overlap between Duchenne Muscular Dystrophy (DMD) and Cerebral Palsy (CP) using bioinformatics-driven gene expression analysis. By identifying Differentially Expressed Genes (DEGs), protein-protein interaction networks and functional annotations, we highlight potential molecular pathways shared by both conditions. Key Extracellular Matrix (ECM) genes, including COL1A2, COL3A1 and Lumican (LUM), emerged as hub genes, suggesting their role in tissue remodeling and neuromuscular function. Additionally, Ezrin (EZR) was upregulated, though its precise contribution to DMD and CP pathology remains unclear and requires further investigation. Our findings provide insights into ECM integrity, inflammation and cytoskeletal regulation as potential common mechanisms underlying DMD and CP. Future research should focus on validating these findings in experimental models to determine their clinical relevance.
Authors
- D. R. Sherin (ORCID: https://orcid.org/0000-0002-1105-7753)
- A. Reshma
- T Philip
- R. Devu
Institutions
- University of Kerala (IN)
- Digital Science (United States) (US)
Publication Details
- Journal
- Journal of Computational Biophysics and Chemistry
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1142/s273741652550036x
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00