The skeletal muscle phenotype of the DE50-MD dog model of Duchenne muscular dystrophy.

ABSTRACT: Background: Animal models of Duchenne muscular dystrophy (DMD) are essential to study disease progression and assess efficacy of therapeutic intervention, however dystrophic mice fail to display a clinically relevant phenotype, limiting translational utility. Dystrophin-deficient dogs exhibit disease similar to humans, making them increasingly important for late-stage preclinical evaluation of candidate therapeutics. The DE50-MD canine model of DMD carries a mutation within a human 'hotspot' region of the dystrophin gene, amenable to exon-skipping and gene editing strategies. As part of a large natural history study of disease progression, we have characterised the DE50-MD skeletal muscle phenotype to identify parameters that could serve as efficacy biomarkers in future preclinical

SUBMITTER: Hildyard JCW 

PROVIDER: S-EPMC9971692 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature