[HTML][HTML] Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy

AE Deconinck, JA Rafael, JA Skinner, SC Brown… - Cell, 1997 - cell.com
AE Deconinck, JA Rafael, JA Skinner, SC Brown, AC Potter, L Metzinger, DJ Watt…
Cell, 1997cell.com
The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy
(DMD), a severe muscle-wasting disease that is inevitably fatal in early adulthood. In
contrast, dystrophin-deficient mdx mice appear physically normal despite their underlying
muscle pathology. We describe mice deficient for both dystrophin and the dystrophin-related
protein utrophin. These mice show many signs typical of DMD in humans: they show severe
progressive muscular dystrophy that results in premature death, they have ultrastructural …
Abstract
The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease that is inevitably fatal in early adulthood. In contrast, dystrophin-deficient mdx mice appear physically normal despite their underlying muscle pathology. We describe mice deficient for both dystrophin and the dystrophin-related protein utrophin. These mice show many signs typical of DMD in humans: they show severe progressive muscular dystrophy that results in premature death, they have ultrastructural neuromuscular and myotendinous junction abnormalities, and they aberrantly coexpress myosin heavy chain isoforms within a fiber. The data suggest that utrophin and dystrophin have complementing roles in normal functional or developmental pathways in muscle. Detailed study of these mice should provide novel insights into the pathogenesis of DMD and provide an improved model for rapid evaluation of gene therapy strategies.
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