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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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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Myotonic Dystrophy (DM) is a genetic disorder that affects muscle function and other systems of the body. There are two main types: 1. Myotonic Dystrophy Type 1 (DM1): Also known as Steinert's disease, DM1 is caused by a mutation in the "DMPK gene" (Dystrophia Myotonica Protein Kinase). The mutation involves an expansion of CTG trinucleotide repeats in this gene, leading to symptoms such as prolonged muscle contractions (myotonia), muscle weakness, …

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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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