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Mending Muscles

Mutated gene fix for dogs with Duchenne muscular dystrophy using CRISPR gene editing

01 October 2018

Mending Muscles

Characterised by progressive muscle weakening, Duchenne muscular dystrophy (DMD) is a crippling condition caused by mutations in the gene for dystrophin, a key structural protein in muscle. Yet fixing this problem may be possible, as recent work with beagle puppies provides pioneering evidence that gene editing techniques can rescue dystrophin in large mammals. Shown here, in green, in healthy diaphragm muscle (right-hand panel), dystrophin is virtually absent in a puppy with DMD (centre), and is visibly restored by intravenous injections of the CRISPR-Cas9 treatment, designed to correct the dystrophin gene (left). Although dystrophin levels varied between muscle types, in the dog receiving the highest treatment dose, all muscles except the tongue showed much greater than 15% recovery, a level at which patients would be expected to feel reduced symptoms. While still a long way from human trials, these encouraging results raise hopes of eventually reversing dystrophy in DMD patients.

Written by Emmanuelle Briolat

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