The paper titled "Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges" explores an advanced therapeutic strategy for treating Duchenne Muscular Dystrophy (DMD), a severe genetic disorder caused by mutations in the dystrophin gene. This mutation leads to the absence of functional dystrophin protein, which is essential for maintaining muscle integrity. One emerging treatment method involves antisense oligonucleotide (AO)-mediated exon skipping, where specific exons are skipped …

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Personal take on this article: Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to muscle degeneration and weakness. In recent years, exon skipping therapy has emerged as a promising molecular treatment. This approach uses antisense oligonucleotides (AONs) to skip specific exons during the mRNA splicing process, helping to restore the reading frame and produce a functional, albeit truncated, dystrophin protein. This …

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    Personal take on this article: Recent developments in Becker muscular dystrophy (BMD) research have focused on improving trial readiness and exploring new treatment strategies. Although BMD has historically been overshadowed by Duchenne muscular dystrophy (DMD), recent advances in diagnostics and natural history studies have highlighted the need for more targeted clinical trials. Improved genetic sequencing has led to more frequent diagnoses of BMD, even in diverse populations, and …

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Personal take on this article: Abstract: This study aimed to evaluate glucose tolerance in adult males with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) using an oral glucose tolerance test (OGTT) and to investigate whether body composition influences glucose response. The study included 28 adults with dystrophinopathy (13 BMD, 15 DMD) and 12 non-dystrophic controls who ingested 75g of glucose. Fingertip blood samples were taken at 30-minute intervals …

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