Therapies for RYR1-Related Myopathies: Where We Stand and the Perspectives.
Ryanodine receptor
calcium
excitation-contraction coupling
gene therapy
myopathy
pharmacological therapy
skeletal muscle
Journal
Current pharmaceutical design
ISSN: 1873-4286
Titre abrégé: Curr Pharm Des
Pays: United Arab Emirates
ID NLM: 9602487
Informations de publication
Date de publication:
2022
2022
Historique:
received:
28
02
2021
accepted:
13
08
2021
pubmed:
14
9
2021
medline:
29
3
2022
entrez:
13
9
2021
Statut:
ppublish
Résumé
RyR1-related myopathies are a family of genetic neuromuscular diseases due to mutations in the RYR1 gene. No treatment exists for any of these myopathies today, which could change in the coming years with the growing number of studies dedicated to the pre-clinical assessment of various approaches, from pharmacological to gene therapy strategies, using the numerous models developed up to now. In addition, the first clinical trials for these rare diseases have just been completed or are being launched. We review the most recent results obtained for the treatment of RyR1-related myopathies, and, in view of the progress in therapeutic development for other myopathies, we discuss the possible future therapeutic perspectives for RyR1-related myopathies.
Identifiants
pubmed: 34514983
pii: CPD-EPUB-117833
doi: 10.2174/1389201022666210910102516
doi:
Substances chimiques
Ryanodine Receptor Calcium Release Channel
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
15-25Informations de copyright
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