Molecular and Cellular Basis of Duchenne Muscular Dystrophy
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".
Deadline for manuscript submissions: closed (15 July 2021) | Viewed by 576
Special Issue Editors
Interests: muscle-forming stem cells; tissue repair; gene editing; muscular dystrophy
Special Issue Information
Dear Colleagues,
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene encoding for the dystrophin protein. Dystrophin is a complex molecule juxtaposed to the subsarcolemmal membrane serving as a critical shock absorber for muscle cells. It binds to F actin in the cytoplasm via its n-terminus and Dystroglycan and associated proteins via the cysteine rich domain. Mutations in dystrophin lead to complete absence of dystrophin in the case of DMD or less functional versions of dystrophin leading to Becker muscular dystrophy (BMD). The loss of dystrophin leads to chronic muscle damage, weakness and eventual loss of muscle. As muscle cells are lost, they are replaced by fat and fibrosis resulting in a sequence of events including inflammatory cascades and transcriptome alterations. The complex pathogenesis of DMD lends itself to diverse therapeutic strategies targeting both the route cause of the disease (dystrophin deficiency) and resulting pathophysiology. A common understanding of muscle development and how this changes in the absence of dystrophin is critical for current and future therapeutic development.
The aim of this Special Issue is to provide a comprehensive overview of the molecular and cellular pathogenic mechanisms that define Duchenne muscular dystrophy (DMD). The disease mechanism has been extensively studied and many therapeutic approaches are in preclinical and clinical stages. We hope that the molecular and cellular mechanisms of dystrophin deficiencies presented by expert laboratories will be a valuable practical support for the community of researchers investigating DMD in diverse contexts and for different purposes.
Dr. Amy J. Wagers
Dr. Louise R. Rodino-Klapac
Guest Editors
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Keywords
- Duchenne muscular dystrophy
- DMD gene
- genetics
- dystrophin-associated protein complex
- muscle growth and repair
- fibrosis
- inflammation
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