Duchenne's muscular dystrophy: animal models used to investigate pathogenesis and develop therapeutic strategies

CA Collins, JE Morgan - International journal of experimental …, 2003 - Wiley Online Library
CA Collins, JE Morgan
International journal of experimental pathology, 2003Wiley Online Library
Duchenne's muscular dystrophy (DMD) is a lethal childhood disease caused by mutations of
the dystrophin gene, the protein product of which, dystrophin, has a vital role in maintaining
muscle structure and function. Homologues of DMD have been identified in several animals
including dogs, cats, mice, fish and invertebrates. The most notable of these are the
extensively studied mdx mouse, a genetic and biochemical model of the human disease,
and the muscular dystrophic Golden Retriever dog, which is the nearest pathological …
Summary
Duchenne's muscular dystrophy (DMD) is a lethal childhood disease caused by mutations of the dystrophin gene, the protein product of which, dystrophin, has a vital role in maintaining muscle structure and function. Homologues of DMD have been identified in several animals including dogs, cats, mice, fish and invertebrates. The most notable of these are the extensively studied mdx mouse, a genetic and biochemical model of the human disease, and the muscular dystrophic Golden Retriever dog, which is the nearest pathological counterpart of DMD. These models have been used to explore potential therapeutic approaches along a number of avenues including gene replacement and cell transplantation strategies. High‐throughput screening of pharmacological and genetic therapies could potentially be carried out in recently available smaller models such as zebrafish and Caenorhabditis elegans. It is possible that a successful treatment will eventually be identified through the integration of studies in multiple species differentially suited to addressing particular questions.
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