TY - JOUR
T1 - Correction of muscular dystrophies by CRISPR gene editing
AU - Chemello, Francesco
AU - Bassel-Duby, Rhonda
AU - Olson, Eric N.
N1 - Funding Information:
We thank J. Cabrera for his creative assistance with the graphics. This work was supported by grants from the NIH (HL-130253, HL-138426, and AR-067294), the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (U54 HD 087351), and the Robert A. Welch Foundation (1-0025 to ENO).
Publisher Copyright:
© 2020, American Society for Clinical Investigation.
PY - 2020/6/1
Y1 - 2020/6/1
N2 - 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.
AB - 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.
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U2 - 10.1172/JCI136873
DO - 10.1172/JCI136873
M3 - Review article
C2 - 32478678
AN - SCOPUS:85085904641
SN - 0021-9738
VL - 130
SP - 2766
EP - 2776
JO - Journal of Clinical Investigation
JF - Journal of Clinical Investigation
IS - 6
ER -