This paper introduces a novel therapeutic approach for Duchenne Muscular Dystrophy (DMD) using NS-089/NCNP-02, an antisense oligonucleotide (ASO) designed to skip exon 44 of the dystrophin gene. DMD is a severe muscle disorder caused by mutations in the DMD gene, leading to a lack of dystrophin protein. Exon skipping helps to restore the reading frame of dystrophin, enabling the production of a shorter but functional dystrophin protein. The authors focused …

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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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Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder affecting males, characterized by muscle degeneration and early death. Antisense-mediated exon skipping therapy offers a new hope by producing a truncated but functional dystrophin protein. Casimersen (Amondys 45) specifically targets exon 45 of the dystrophin gene, which applies to about 8% of DMD patients. The drug was approved by the FDA in 2021, based on its promising preclinical and phase I/II …

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The paper presents findings from a phase 3 clinical trial (EMBARK) evaluating the efficacy and safety of a gene therapy, delandistrogene moxeparvovec, in patients with Duchenne muscular dystrophy (DMD). DMD is a severe, inherited condition that progressively weakens muscles due to the absence of dystrophin. The therapy uses an AAV vector to deliver a functional dystrophin gene into muscle cells. The trial involved boys aged 4 to 8, who were …

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This study focuses on translating microarray findings from golden retriever muscular dystrophy (GRMD) to identify biomarkers that could reflect cardiac and skeletal muscle function in Duchenne muscular dystrophy (DMD) patients. Since DMD affects both cardiac and skeletal muscle function, identifying molecular differences between these tissues can help predict disease progression. The research utilized GRMD models, which closely mimic DMD in humans, and studied gene expression in the left ventricle (LV) …

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Golden Retriever Muscular Dystrophy (GRMD) is a genetic disorder in dogs that closely resembles Duchenne Muscular Dystrophy (DMD) in humans. It is caused by a mutation in the *dystrophin* gene, which leads to the absence or severe deficiency of dystrophin protein in muscle cells. Without dystrophin, muscle cells become damaged and progressively weaken, leading to the characteristic symptoms of the disease. GRMD has been extensively studied as a model for …

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Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder characterized by progressive muscle degeneration, often leading to severe cardiac complications. This systematic review aimed to analyze and grade the available literature on predictors of cardiac disease in DMD patients. The researchers reviewed studies published from 2000 to 2022, involving 9,232 patients across 33 publications. The focus was on pharmacological treatments and genetic mutations that influence heart health in DMD patients, …

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Personal take on this article: This paper describes the diagnosis of Duchenne Muscular Dystrophy (DMD) in a presymptomatic infant using Next-Generation Sequencing (NGS) and Chromosomal Microarray Analysis (CMA). DMD is a progressive X-linked recessive disease caused by mutations in the dystrophin gene, leading to muscle weakness. Early diagnosis is crucial for starting treatments before significant muscle damage occurs, but DMD often faces diagnostic delays. In this case, a four-month-old infant …

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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: Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to progressive muscle deterioration. The lack of functional dystrophin causes muscle weakness, cardiac and respiratory issues, and ultimately leads to early death. Traditional treatments like corticosteroids only delay the disease progression and are associated with serious side effects. In recent years, gene and antisense therapies have emerged as …

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