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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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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    Personal take on this article: This paper outlines consensus guidelines for the design and testing of antisense oligonucleotides (ASOs) specifically tailored to individual patients, known as N-of-1 therapies. ASOs are short strands of synthetic DNA that can modify gene expression by altering pre-mRNA splicing, offering potential treatments for various genetic diseases. The paper highlights the importance of designing ASOs that skip certain exons to restore protein function, which …

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    Personal take on this article: The paper provides a comprehensive set of guidelines for designing antisense oligonucleotides (AONs) with a focus on splice modulation. AONs are tools used to interfere with gene expression by targeting specific mRNA sequences, either to degrade them, block translation, or modify splicing. This study particularly focuses on the latter, using AONs to induce exon skipping in the dystrophin gene, which has therapeutic potential …

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    Personal take on this article:   The study investigates the role of high mobility group box protein 1 (HMGB1) as a potential biomarker for Duchenne muscular dystrophy (DMD) by utilizing RNA sequencing in mouse models and human induced pluripotent stem cell (iPSC)-derived skeletal muscle cells. The findings suggest that HMGB1 is elevated in DMD conditions and can be reduced with gene therapy using microdystrophin. This indicates that HMGB1 …

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