Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA
Open accessAbstract
Genome editing corrects a muscle disease: Patients with Duchenne muscular dystrophy find their muscles growing progressively weaker. Studies identified dystrophin as the culprit gene, which galvanized research into gene-targeted therapies. Long et al. apply genome editing to “correct” the disease-causing mutation in mice genetically destined to develop the disease. This germline editing strategy kept muscles from degenerating, even in mice harboring only a small percentage of corrected cells. Although not feasible for humans, this proof of concept sets the stage for applying genome editing to specific cell types involved in the disease. Science , this issue p. 1184
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Restoration of a small percentage (~15%) of normal dystrophin expression levels can provide a clinical benefit.
“Notably, restoration of a small percentage (~15%) of normal dystrophin expression levels can provide a clinical benefit 15 .”
From The promise and challenge of therapeutic genome editing (2020) · cites this paper as [15]
The supplied passages (labeled Abstract; page unavailable) report that correcting 17% of mutant Dmd alleles in mice restored dystrophin in many muscle fibers and reduced dystrophic features. They do not show that dystrophin expression was restored to ~15% of normal levels: 17% refers to gene correction, not protein expression. The reported benefits are in mice, not a demonstrated clinical benefit in patients. (LLM, conf=0.88)
Experimental — accuracy not yet measuredSeveral groups have demonstrated in vitro correction of genetic disease genes including CFTR, Crygc and DMD in organoids or mouse zygotes.
“Several groups have also demonstrated in vitro correction of genetic disease genes including CFTR (cystic fibrosis)9, Crygc (cataracts)10 and DMD (Duchenne muscular dystrophy)11 in organoids or mouse zygotes.”
From Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo (2016) · cites this paper as [11]
Gene correction imposes a growth advantage.
“indicating a growth advantage imposed by the gene correction.”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [29]
In a mouse model of DMD, CRISPR-Cas9-mediated germline editing gave rise to genetically mosaic offspring with 2-100% somatic cells carrying the corrected culprit gene.
“In a mouse model of Duchenne muscular dystrophy (DMD), an inherited X-linked monogenic disease, CRISPR-Cas9-mediated gene editing in the germline gave rise to genetically mosaic offsprings with 2-100% somatic cells carrying the corrected version of the culprit gene.29”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [29]
In one experimental mouse, 17% gene corrections resulted in 47-60% rescued muscle cells.
“for example, 17% gene corrections resulted in 47-60% rescued muscle cells in one of the experimental mouse”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [29]
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References 37 · Cited by 720
- Authors
- Long, C., McAnally, J. R., Shelton, J. M., Mireault, A. A., Bassel-Duby, R., & Olson, E. N.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Department of Molecular Biology and Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
- Corresponding author
- Long, Chengzu
- McAnally, John R.
- Olson, Eric N.
- Venue
- Science
- Published
- 2014-09-05
- Volume
- 345
- Issue
- 6201
- Pages
- 1184-1188
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4398027
- OpenAlex
- W2014639769
- Cited by
- 720
- References
- 37
- Citations by year
- 2026: 12 · 2025: 30 · 2024: 34 · 2023: 39 · 2022: 57 · 2021: 49 · 2020: 65 · 2019: 63 · 2018: 76 · 2017: 90 · 2016: 99 · 2015: 94 · 2014: 12
- FWCI
- 40.35
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5u01hl100401-07)
- National Heart, Lung, and Blood Institute (R01HL111665, R01HL077439, HL- 111665, U01-HL-100401, R01HL093039, HL077439, HL093039)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK099653, R01DK099653)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Keywords
- Duchenne muscular dystrophy, dystrophin, dystrophin gene, CRISPR/Cas9 genome editing, germline editing, mdx mice, genetic mosaicism, muscle regeneration, X-linked inheritance, disease prevention
- MeSH terms
- Animals, DNA, Exons, Germ Cells, Genetic Therapy, Dystrophin, Mice, Inbred mdx, Gene Targeting, Muscle, Skeletal, Muscular Dystrophy, Duchenne, Mice, CRISPR-Cas Systems
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