Journal
NEUROMUSCULAR DISORDERS
Volume 28, Issue 10, Pages 803-824Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2018.06.009
Keywords
Dystrophin; Duchenne muscular dystrophy; Therapy; Muscle; Dystroglycan-protein complex
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Funding
- NIH NIAMS [U54 AR052646]
- Wellstone Center of Excellence Training Fellowship
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Dystrophinopathies are diseases caused by mutations in the Duchenne Muscular Dystrophy gene (DMD) encoding the dystrophin protein. Depending on the type of mutation, patients develop either the severe DMD or the milder Becker Muscular Dystrophy. Although substantial effort was made, the pathophysiology and variation in disease severity are still poorly understood. During the last two decades, relentless efforts were made to develop therapeutic strategies. Among these, gene therapy and cell replacement therapy appear very promising. These approaches are based on the replacement and/or repair of the mutated DMD gene or transcript at the molecular level, or at the cellular level via replacement of the damaged muscle cells. While highly successful in animal models, these therapies showed only modest efficacy in human clinical trials. More importantly, variable effects were observed in patients carrying the same mutation, suggesting that several factors (e.g., genetic modifiers, environmental factors) can affect treatment outcomes. In this review, we will describe recent advancements and new approaches of gene and cell therapies for dystrophinopathies that pave the way for a medicine a la carte. (C) 2018 Elsevier B.V. All rights reserved.
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