Emerging therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances

Area of Science:

• Genetics and Molecular Biology
• Neurology
• Biomedical Engineering

Background:

• Muscular dystrophy (MD) encompasses genetic disorders causing progressive skeletal muscle degeneration.
• Specific types like myotonic dystrophy (DM1, DM2) and facioscapulohumeral muscular dystrophy (FSHD1, FSHD2) have distinct genetic underpinnings.
• Limited effective treatments necessitate exploration of novel therapeutic avenues.

Purpose of the Study:

• To review the pathogenesis of various MD types, detailing genetic mutations and cellular dysfunctions.
• To comprehensively research current and emerging treatment strategies for MD.
• To highlight the impact of artificial intelligence (AI) on MD diagnosis, management, and treatment discovery.

Main Methods:

• Literature review of genetic causes, molecular mechanisms, and pathway deregulation in MD.
• Analysis of diverse therapeutic approaches including protein replacement, stem cells, exon skipping, gene therapy, and drug discovery.
• Examination of AI applications in MD research and clinical practice.

Main Results:

• Detailed elucidation of the genetic basis and molecular pathology for major MD subtypes.
• Overview of promising, albeit limited, therapeutic interventions currently available or under investigation.
• Demonstration of AI's potential in accelerating compound discovery and improving MD management.

Conclusions:

• Understanding MD pathogenesis is crucial for developing targeted therapies.
• A multi-faceted approach combining genetic insights, advanced therapeutics, and AI is essential for tackling MD.
• AI-driven strategies offer significant promise for future MD treatment breakthroughs.