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Micro-utrophin Improves Cardiac and Skeletal Muscle Function of Severely Affected D2/mdx Mice.


ABSTRACT: Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disease caused by mutations in the dystrophin gene. DMD boys are wheelchair-bound around 12 years and generally survive into their twenties. There is currently no effective treatment except palliative care, although personalized treatments such as exon skipping, stop codon read-through, and viral-based gene therapies are making progress. Patients present with skeletal muscle pathology, but most also show cardiomyopathy by the age of 10. A systemic therapeutic approach is needed that treats the heart and skeletal muscle defects in all patients. The dystrophin-related protein utrophin has been shown to compensate for the lack of dystrophin in the mildly affected BL10/mdx mouse. The purpose of this investigation was to demonstrate that AAV9-mediated micro-utrophin transgene delivery can not only functionally replace dystrophin in the heart, but also attenuate the skeletal muscle phenotype in severely affected D2/mdx mice. The data presented here show that utrophin can indeed alleviate the pathology in skeletal and cardiac muscle in D2/mdx mice. These results endorse the view that utrophin modulation has the potential to increase the quality life of all DMD patients whatever their mutation.

SUBMITTER: Kennedy TL 

PROVIDER: S-EPMC6216100 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Micro-utrophin Improves Cardiac and Skeletal Muscle Function of Severely Affected D2/<i>mdx</i> Mice.

Kennedy Tahnee L TL   Guiraud Simon S   Edwards Ben B   Squire Sarah S   Moir Lee L   Babbs Arran A   Odom Guy G   Golebiowski Diane D   Schneider Joel J   Chamberlain Jeffrey S JS   Davies Kay E KE  

Molecular therapy. Methods & clinical development 20181016


Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disease caused by mutations in the dystrophin gene. DMD boys are wheelchair-bound around 12 years and generally survive into their twenties. There is currently no effective treatment except palliative care, although personalized treatments such as exon skipping, stop codon read-through, and viral-based gene therapies are making progress. Patients present with skeletal muscle pathology, but most also show cardiomyopathy by the age of  ...[more]

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