This article is simplified from English Wikipedia. https://en.wikipedia.org/wiki/Exon_skipping  Exon skipping is a molecular biology technique used to address genetic mutations by causing cells to bypass defective sections (exons) of the genetic code. This process involves manipulating RNA splicing, specifically targeting mutations in the pre-messenger RNA.    Genes contain coding regions called exons, which provide instructions for protein creation, separated by non-coding introns. Exon skipping aims to restore the reading …

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  Personal take on this article:   This article explores dysferlinopathies, a group of muscular dystrophies leading to muscle weakness due to mutations in the DYSF gene. The gene is responsible for producing dysferlin, a vital protein for muscle membrane repair. The review covers the clinical aspects, molecular mechanisms, and emerging therapies for dysferlinopathies. It emphasizes the varied symptoms and the challenge of understanding how specific mutations relate to the …

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Personal take on this article:   Duchenne muscular dystrophy (DMD) is a serious condition without a cure. Instead, treatments aim to slow down its progression. Currently, there are experimental treatments in phase I trials that could offer new options for patients.     This review discusses ongoing and recent early-stage trials for DMD treatments. These include therapies that skip certain genetic sections (exons) and gene therapies. Additionally, it covers phase …

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  Personal take on this article:   The injection of Wnt7a into muscles has been shown to speed up muscle repair and improve muscle health in a mouse model of Duchenne muscular dystrophy (DMD). However, it's not clear if Wnt7a is necessary for muscle repair. In this study, we looked at mice with and without Wnt7a in their muscles to see how well their muscles could heal after injury. We …

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  We discovered that a protein called Wnt7a is elevated and released from newly regenerating muscle fibers in response to muscle injury, triggering a healing response. However, isolating extracellular vesicles (EVs) from muscle tissue is challenging. Traditional methods, like ultracentrifugation, often lead to contamination with non-EV proteins and cellular fragments. To overcome this, we developed a new protocol using Tangential Flow Filtration (TFF) and Size Exclusion Chromatography (SEC). This method …

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Personal take on this article: This article discusses how the turnover of cells in skeletal muscles, crucial for maintenance and repair, is controlled by specialized cells called satellite cells. These cells typically stay inactive but occasionally become active to fuse with nearby muscle fibers, renewing the pool of satellite cells. The article explores the mechanisms that maintain the delicate balance between self-renewal and differentiation in satellite cells for long-term muscle …

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DYSF (Dysferlin): Dysferlin is a protein associated with Miyoshi Myopathy and Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B). Dysferlin plays a crucial role in muscle membrane repair and regeneration. Mutations in the DYSF gene lead to deficiencies in dysferlin, resulting in impaired membrane repair mechanisms and progressive muscle degeneration. Individuals with dysferlinopathies, including Miyoshi Myopathy and LGMD2B, typically experience weakness in the proximal muscles, particularly in the shoulder and pelvic girdle …

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Skeletal Muscle FSHD (Facioscapulohumeral Muscular Dystrophy): Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the face, shoulders, and upper arms. FSHD is associated with a contraction of the D4Z4 repeat sequence on chromosome 4, leading to decreased repression of the DUX4 gene. Abnormal expression of the DUX4 gene is thought to contribute to muscle degeneration in FSHD. This …

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1. LGMD2I (Limb-Girdle Muscular Dystrophy Type 2I - FKRP Deficiency): LGMD2I is a subtype of limb-girdle muscular dystrophy characterized by muscle weakness and wasting, particularly affecting the muscles around the shoulders and hips. It is caused by mutations in the FKRP gene, leading to a glycosylation defect. This defect interferes with the proper glycosylation of alpha-dystroglycan, a protein crucial for maintaining muscle cell structure and function. The compromised glycosylation results …

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1. ZNF9 (Zinc Finger Protein 9): Mutations in the ZNF9 gene are associated with a type of myotonic dystrophy. Similar to DM1 and DM2, it involves muscle weakness and myotonia, but it represents a distinct genetic cause.   2. BMD (Becker Muscular Dystrophy): BMD is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene. It shares similarities with Duchenne Muscular Dystrophy (DMD) but generally has a later …

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