Duchenne muscular dystrophy: advances in therapeutics by Jeffrey S. Chamberlain, Thomas A. Rando

By Jeffrey S. Chamberlain, Thomas A. Rando

Duchenne Muscular Dystrophy (DMD) is likely one of the such a lot established genetic problems of adolescence and presently stands as an incurable situation. This authoritative consultant presents a transparent review of the newest present and experimental techniques to the therapy of DMD and examines the medical, genetic, and pathophysiological features of the ailment within the context of rising healing modalities. the one on hand resource at the topic, this reference emphasizes the significance of exact prognosis, provider detection, and genetic counseling, and provides state of the art contributions on pharmacological interventions, regenerative drugs, and gene remedy.

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The syntrophins bind to nNOS, which also binds caveolin-3. The DG and SG complexes and sarcospan are synthesized in the endoplasmic reticulum (ER), where they remain as separate complexes (29). After translocation to the Golgi apparatus, a single large complex is assembled. Dystrophin is synthesized in polyribosomes and subsequently attaches to b-DG, which extrudes its intracellular domain from the Golgi membrane into the cytoplasm. Glycosylation of the DG and SG subunits occurs during transport from the ER to the cell membrane.

Hoffman EP. Dystrophinopathies. In: Karpati G, Hilton-Jones D, Griggs RC, eds. Disorders of Voluntary Muscle. Cambridge: Cambridge University Press, 2001:385–482. 6. Pennington R. Serum enzymes. In: Rowland L, ed. Pathogenesis of Human Muscular Dystrophies. Amsterdam: Excerpta Medica, 1977:341–349. 7. Rowland LP. Pathogenesis of muscular dystrophies. Arch Neurol 1976; 33(5): 315–321. 8. Rando TA. The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies.

What do animal models tell us, and do they provide a means of screening a potential treatment? How do we utilize the advances in gene transfer to treat DMD? How can we use the support of patients and be prepared to evaluate potential therapies? What are some strategies we can pursue to optimize therapy with prednisone? 18 Moxley REFERENCES 1. Brooke MH, Fenichel GM, Griggs RC, et al. Clinical investigation in Duchenne dystrophy: 2. Determination of the ‘‘power’’ of therapeutic trials based on the natural history.

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