Brain Dystrophin in Duchenne Dystrophy

Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment.

Duchenne muscular dystrophy (DMD) is caused by mutations in the gene that encodes the 427-kDa cytoskeletal protein dystrophin. Increased knowledge of the function of dystrophin and its role in muscle has led to a greater understanding of the pathogenesis of DMD. This, together with advances in the genetic toolkit of the molecular biologist, are leading to many different approaches to treatment....

Duchenne Muscular Dystrophy: Therapeutic Approaches to Restore Dystrophin

Dystrophin Levels Required for Genetic Correction of Duchenne Muscular Dystrophy

Correction of the muscle pathology in Duchenne muscular dystrophy (DMD) could theoretically be achieved if methods are developed to produce functional versions of the dystrophin protein in muscle tissue. While a variety of approaches are currently being tested to achieve this aim, we have explored the feasibility of correcting the dystrophic pathology using transgenic mouse model systems. By ge...

Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.

Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in 19 patients with Xp21 disorders and in 25 individuals with non-Xp21 muscular dystrophy. Antibodies raised to seven different regions spanning most of the protein were used for immunocytochemistry. In all patients specific dystrophin staining anomalies were detected and correlated with clinical severity...

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a cytoskeletal protein tightly associated with a large oligomeric complex of sarcolemmal glycoproteins including dystroglycan, which provides a linkage to the extracellular matrix component, laminin. In DMD, the absence of dystrophin leads to a drastic reduction in all of the dystrophin-associated proteins, causin...