Genome Editing of Monogenic Neuromuscular Diseases

Abstract

Background: The literature review presents a comprehensive analysis of the advancements and challenges in genome editing technologies, particularly focusing on CRISPR/Cas9, in the context of monogenic neuromuscular diseases such as Duchenne muscular dystrophy (DMD). Literature Review: The introduction outlines the urgency of developing effective treatments for DMD, a condition currently lacking approved therapies, and highlights the foundational work in gene delivery systems that has paved the way for innovative therapeutic strategies (L Maeder & A Gersbach, 2016). The review systematically discusses the transformative potential of CRISPR/Cas9 technology, emphasizing its efficiency and cost-effectiveness compared to traditional gene editing methods (Gaskell1 & Abualhaj2, 2018). The dual pathways for DNA repair—Non-Homologous End Joining (NHEJ) and Homology Directed Repair (HDR)—are articulated, with the former often leading to unpredictable outcomes, while the latter offers more precise modifications, crucial for addressing genetic disorders (You et al., 2019). Moreover, the challenges posed by unique patient mutations and the necessity for optimized delivery systems are discussed, underscoring the importance of tailoring gene editing approaches to individual patient needs (A. Abdelnour et al., 2021). The review also addresses the ongoing clinical trials utilizing CRISPR technologies, which represent significant steps toward practical applications in treating genetic disorders (Min Lim & Henry Kim, 2022). Conclusion: In conclusion, the literature underscores the promise of CRISPR/Cas9 technology in revolutionizing the treatment landscape for monogenic neuromuscular diseases, while also emphasizing the critical need for rigorous preclinical studies to evaluate long-term safety and efficacy. The synthesis of findings from various articles illustrates both the advancements made and the hurdles that remain, calling for continued research to refine these innovative therapies for broader clinical application.