Medical Research Council - London Institute of Medical Sciences

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Editing Better Muscles

Maximising gene editing to repair the mutated dystrophin gene responsible for Duchenne muscular dystrophy

03 April 2019

Editing Better Muscles

Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease caused by mutations to dystrophin – a protein inside muscle cells that provides essential mechanical stability. Without functional dystrophin, DMD sufferers gradually lose muscle strength, become increasingly frail, have trouble breathing and generally don't live past their 30s. The nature of the dystrophin mutations is such that gene-editing technology has been posited as a potential treatment. Indeed, engineered mice and dogs carrying DMD mutations have had functional dystrophin partly restored as a result of gene editing. Scientists are now optimising the technique to maximise its efficiency in human cells. The image shows heart cells derived from reprogrammed DMD patient cells before (left) and after (right) gene editing to restore dystrophin (red). These technical successes in mammalian models and patient cells brings the promise of a gene-editing treatment for DMD one step closer to reality.

Written by Ruth Williams

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