Duchenne muscular dystrophy (DMD) is a severe, inherited muscle-wasting disorder caused by mutations in the DMD gene, leading to dystrophin deficiency and downstream pathological cascades, including calcium overload, muscle necrosis, fibrosis, and progressive cardiac and skeletal muscle dysfunction. While mouse models are commonly used, they fail to fully model the human disease. The canine DMD model offers a more accurate representation of the disease, exhibiting progressive muscle weakness, respiratory decline, and cardiomyopathy. In a study in Disease Models & Mechanisms, researchers addressed an important technical limitation by developing a custom antibody specific to canine Dwarf open reading frame (DWORF), a micropeptide implicated in calcium handling and muscle function. Using this tool, they found that DWORF expression—previously demonstrated to have a protective role in muscular wasting diseases—is reduced in the skeletal and cardiac muscles of adult DMD dogs. This is the first characterization of DWORF protein in a large-animal model of DMD, providing groundwork for preclinical evaluation of DWORF-targeted therapies in a system that more accurately reflects human DMD pathology.
Original reference: Gibson, A.M. et al. Dis. Model & Mech. 18, dmm052285 (2025)
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