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.

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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
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article

Deciphering Genetic Associations: Insights into Common Molecular Pathways in Duchenne Muscular Dystrophy and Cerebral Palsy

D. R. Sherin, A. Reshma, T Philip, R. Devu
Journal of Computational Biophysics and Chemistry
Muscle Physiology and Disorders
article

Deciphering Genetic Associations: Insights into Common Molecular Pathways in Duchenne Muscular Dystrophy and Cerebral Palsy

D. R. Sherin, A. Reshma, T Philip, R. Devu
article en

Abstract

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.

Journal of Computational Biophysics and ChemistryVol. 25(01)
University of Kerala (IN), Digital Science (United States) (US)
Openalex Percentile: Top 95%
Muscle Physiology and Disorders
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