Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy
- Journal:
- Nature Medicine
- Published:
- DOI:
- 10.1038/s41591-019-0738-2
- Affiliations:
- 12
- Authors:
- 44
Research Highlight
Gene therapy fixes muscular dystrophy in pigs
© Jo Parsons/Getty
Scientists have for the first time repaired the mutated gene responsible for Duchenne muscular dystrophy (DMD) in living pigs.
Muscular dystrophy is a genetic disorder that causes progressive muscle degeneration and weakness. It is caused by a defective DMD gene, which codes for dystrophin — a protein that helps keep muscle cells intact.
Now, a Technical University Munich–led team has used CRISPR gene-editing technology to precisely snip out a chunk of DNA in the faulty DMD gene, which encodes for dystrophin. They did not repair the genetic error per se, but instead produced a sequence that, while truncated, encodes a partially functional version of dystrophin.
Pigs treated with this gene therapy had a milder disease course, with improved muscle function, longer life expectancy and less of a tendency to exhibit irregular heartbeats. Laboratory studies with patient-derived induced pluripotent stem cells further validated the therapy’s promise in a human cellular model.
References
- Nature Medicine 26, 207–214 (2020). doi: 10.1038/s41591-019-0738-2