Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

Journal: Nature Medicine

Published: 2020-01-27

DOI: 10.1038/s41591-019-0738-2

Affiliations: 12

Authors: 44

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Research Highlight

Gene therapy fixes muscular dystrophy in pigs

© Jo Parsons/Getty

© 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.

Supported content

  1. Nature Medicine 26, 207–214 (2020). doi: 10.1038/s41591-019-0738-2
Institutions Share
Munich Heart Alliance (MHA), Germany 0.55
Ludwig Maximilians University of Munich (LMU), Germany 0.25
Hospital Grosshadern, LMU, Germany 0.07
Helmholtz Zentrum München - German Research Center for Environmental Health (HMGU), Germany 0.05
Technical University of Munich (TUM), Germany 0.04
University Hospital of Munich (KUM), LMU, Germany 0.02
Helmholtz Centre for Environmental Research (UFZ), Germany 0.02
German Center for Neurodegenerative Diseases within the Helmholtz Association (DZNE), Germany 0.01
Cluster of Excellence - Munich Cluster for Systems Neurology (SyNergy), LMU, Germany 0.01