Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins DOI Creative Commons
João Silva, María Xesús Nogueira Pereira,

Yara Martins da Silva

et al.

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: Jan. 26, 2025

Abstract Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration skeletal muscles. These conditions often result from structural defects in the Dystrophin–Glycoprotein Complex (DGC), as seen Duchenne Dystrophy (DMD) Becker (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets improve patients’ quality life. In this study, tissue samples DMD BMD patients, well non-dystrophic controls, were analyzed using label-free mass spectrometry (MS/MS) characterize proteomic profile these identify biomarkers for differential diagnosis. In-silico analysis revealed that dystrophic tissues linked biological processes related cellular energy metabolism, including oxidation organic compounds, production, respiration. Enrichment functions associated with cell structure RNA binding was also observed, cytoskeletal protein binding. The human phenotypes most signature abnormal circulating metabolites, physiology, weakness. Quantitative identified significant changes proteins sarcomere organization ubiquitination, such myomesin, myozenin, E3 ubiquitin-protein ligase rififylin, suggesting targets.

Language: Английский

Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins DOI Creative Commons
João Silva, María Xesús Nogueira Pereira,

Yara Martins da Silva

et al.

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: Jan. 26, 2025

Abstract Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration skeletal muscles. These conditions often result from structural defects in the Dystrophin–Glycoprotein Complex (DGC), as seen Duchenne Dystrophy (DMD) Becker (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets improve patients’ quality life. In this study, tissue samples DMD BMD patients, well non-dystrophic controls, were analyzed using label-free mass spectrometry (MS/MS) characterize proteomic profile these identify biomarkers for differential diagnosis. In-silico analysis revealed that dystrophic tissues linked biological processes related cellular energy metabolism, including oxidation organic compounds, production, respiration. Enrichment functions associated with cell structure RNA binding was also observed, cytoskeletal protein binding. The human phenotypes most signature abnormal circulating metabolites, physiology, weakness. Quantitative identified significant changes proteins sarcomere organization ubiquitination, such myomesin, myozenin, E3 ubiquitin-protein ligase rififylin, suggesting targets.

Language: Английский

Citations

0