| Literature DB >> 32478678 |
Francesco Chemello, Rhonda Bassel-Duby, Eric N Olson.
Abstract
Muscular dystrophies are debilitating disorders that result in progressive weakness and degeneration of skeletal muscle. Although the genetic mutations and clinical abnormalities of a variety of neuromuscular diseases are well known, no curative therapies have been developed to date. The advent of genome editing technology provides new opportunities to correct the underlying mutations responsible for many monogenic neuromuscular diseases. For example, Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene, has been successfully corrected in mice, dogs, and human cells through CRISPR/Cas9 editing. In this Review, we focus on the potential for, and challenges of, correcting muscular dystrophies by editing disease-causing mutations at the genomic level. Ideally, because muscle tissues are extremely long-lived, CRISPR technology could offer a one-time treatment for muscular dystrophies by correcting the culprit genomic mutations and enabling normal expression of the repaired gene.Entities:
Mesh:
Substances:
Year: 2020 PMID: 32478678 PMCID: PMC7259998 DOI: 10.1172/JCI136873
Source DB: PubMed Journal: J Clin Invest ISSN: 0021-9738 Impact factor: 14.808