Gene therapies for RyR1-related myopathies.

Isabelle Marty, Mathilde Beaufils, Julien Fauré, John Rendu

Journal: Current opinion in pharmacology 2023;68():102330

PMID: 36529094

Full Text on Elsevier Science View on PubMed

Abstract

Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because of the very large size of the gene and protein, and of the distribution of variations all along the sequence. Taking advantage of the progress made in the gene therapy field, different approaches can be applied to the different genetic variations, either at the mRNA level or directly at the DNA level, specifically with the new gene editing tools. Some of those have already been tested in cellulo and/or in vivo, and for the development of the most innovative gene editing technology, inspiration can be sought in other genetic diseases.

Address: Univ. Grenoble Alpes, INSERM, Grenoble Institut Neurosciences, U1216, CHU Grenoble Alpes, Grenoble, France. Electronic address: [email protected].; Univ. Grenoble Alpes, INSERM, Grenoble Institut Neurosciences, U1216, CHU Grenoble Alpes, Grenoble, France.

DOI: 10.1016/j.coph.2022.102330

Link outs

Free resources

Medical:

https://medlineplus.gov/muscledisorders.html

Subscription / membership required

Full Text Sources:

MeSH Terms: Humans, Ryanodine Receptor Calcium Release Channel, Muscular Diseases, Muscle, Skeletal, Mutation