Role of Calcium Homeostasis in the Duchenne Muscular Dystrophy
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cell Signaling".
Deadline for manuscript submissions: closed (20 June 2023) | Viewed by 250
Special Issue Editor
Special Issue Information
Dear Colleagues,
Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is an X-linked muscle degenerative disease present in 1.7–2.1 of every 10,000 male births. In DMD patients, dystrophin loss leads to the destabilization of the dystrophin glycoprotein complex and sarcolemma instability, resulting in functional deficits. The absence of functional dystrophin ultimately leads to the degeneration and death of skeletal and cardiac muscle, being replaced by fibrous tissue. Finally, patients progress to death because of respiratory or cardiac failure. Even with the numerous studies and clinical trials that have been performed, and the existence of several promising therapeutic strategies that are currently under development, there is presently no effective disease-modifying therapy, and many questions remain unanswered. As a major secondary event, an abnormal elevation of the intracellular calcium concentration (Ca2+)i in the dystrophin-deficient muscle contributes to disease progression in DMD, suggesting that targeting Ca2+-handling mechanisms could be a promising therapeutic strategy for DMD. Calcium homeostasis abnormalities are a common pathological feature demonstrated in animal models of this disease, as well as in dystrophic cells and DMD patients. It has been demonstrated that the sarcolemma, sarcoplasmic reticulum, and mitochondria may play a role in the abnormal and sustained elevation of (Ca2+)i levels. However, no treatment targeting calcium pathways has been successful, pointing out that the role of dystrophin is not fully understood and that the interplay between its function, calcium regulation, and muscle survival still requires in-depth basic research.
Dr. Stéphane Sebille
Guest Editor
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Keywords
- Calcium homeostasis
- Duchenne muscular dystrophy
- Ion channels
- calcium signaling
- dystrophin
- myopathy
- cardiomyopathy
- myogenesis
- IPSC disease modeling
- sarcolemma
- endoplasmic reticulum
- mitochondria
