Immortalized Skeletal Muscle Cells: Advancing DMD Research    Immortalized skeletal muscle cells derived from both healthy individuals and Duchenne muscular dystrophy (DMD) patients offer a powerful platform for scientific discovery in the field of neuromuscular disorders. These cells provide a reproducible model for studying disease mechanisms and investigating therapeutic strategies, particularly in the context of exon-skipping therapies.     By using these immortalized cells, researchers can explore how …

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Dystrophin, a crucial protein for maintaining muscle integrity, is severely deficient in Duchenne Muscular Dystrophy (DMD) patients. Quantifying dystrophin restoration following therapeutic interventions is essential for evaluating treatment efficacy. Western blotting, a widely used protein analysis technique, plays a pivotal role in this quantification, with anti-dystrophin antibodies being central to its success.   Anti-dystrophin antibodies are specifically designed to detect and bind dystrophin protein, making them indispensable for Western blot …

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  Background: Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by mutations in the DMD gene. These mutations disrupt the dystrophin protein, essential for muscle function. Current treatments, like exon-skipping oligonucleotides, have limitations due to their short lifespan and need for frequent administration.   Objective: This study explored the use of a self-complementary adeno-associated virus (scAAV9) vector expressing U7 small nuclear RNA (snRNA) to target exon 2 of …

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  Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to muscle degeneration and early death. Antisense oligonucleotides (AONs) are promising therapeutic agents designed to skip faulty exons in the dystrophin gene and restore functional protein.   This study evaluated the efficiency of AONs targeting exon 53 of the dystrophin gene in a mouse model, using chemically modified AONs to enhance skipping …

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Exon skipping is a promising therapeutic strategy for Duchenne muscular dystrophy (DMD), a severe genetic disorder. By using antisense oligonucleotides (AOs), this method aims to restore a partially functional dystrophin protein. The study conducted a systematic review and meta-analysis of five randomized controlled trials (RCTs) involving 322 participants, focusing on two drugs: eteplirsen and drisapersen. The analysis evaluated outcomes such as the 6-minute walk test (6MWT), North Star Ambulatory Assessment …

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  This study explores the impact of voluntary exercise on the effectiveness of a gene therapy approach for Duchenne muscular dystrophy (DMD) using the D2-mdx murine model. DMD is caused by mutations in the dystrophin gene, leading to muscle damage and impaired regeneration. The research uses adeno-associated virus (AAV)-mediated U7 snRNA to skip a mutation-containing exon and restore dystrophin production. D2-mdx mice were treated with AAV-U7 and allowed to run …

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Casimersen (AMONDYS 45™) is a therapeutic antisense oligonucleotide designed for patients with Duchenne Muscular Dystrophy (DMD) whose gene mutation is amenable to exon 45 skipping. DMD is a genetic disorder characterized by the absence of dystrophin, a crucial protein for muscle function. This results in progressive muscle degeneration and loss of mobility, eventually affecting the heart and lungs. Casimersen works by binding to the mutated pre-mRNA, skipping exon 45 to …

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