Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses
doi: 10.1038/15519
pmid: 10610181
Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses
Mutations in the dystrophin gene (DMD) and in genes encoding several dystrophin-associated proteins result in Duchenne and other forms of muscular dystrophy. alpha-Dystroglycan (Dg) binds to laminins in the basement membrane surrounding each myofibre and docks with beta-Dg, a transmembrane protein, which in turn interacts with dystrophin or utrophin in the subplasmalemmal cytoskeleton. alpha- and beta-Dgs are thought to form the functional core of a larger complex of proteins extending from the basement membrane to the intracellular cytoskeleton, which serves as a superstructure necessary for sarcolemmal integrity. Dgs have also been implicated in the formation of synaptic densities of acetylcholine receptors (AChRs) on skeletal muscle. Here we report that chimaeric mice generated with ES cells targeted for both Dg alleles have skeletal muscles essentially devoid of Dgs and develop a progressive muscle pathology with changes emblematic of muscular dystrophies in humans. In addition, many neuromuscular junctions are disrupted in these mice. The ultrastructure of basement membranes and the deposition of laminin within them, however, appears unaffected in Dg-deficient muscles. We conclude that Dgs are necessary for myofibre survival and synapse differentiation or stability, but not for the formation of the muscle basement membrane, and that Dgs may have more than a purely structural function in maintaining muscle integrity.
- McGill University Canada
Membrane Glycoproteins, Chimera, Receptor Aggregation, Neuromuscular Junction, Membrane Proteins, Mice, Transgenic, Basement Membrane, Muscular Dystrophies, Hindlimb, Dystrophin, Cytoskeletal Proteins, Mice, Microscopy, Electron, Mutation, Animals, Humans, Laminin, Dystroglycans, Muscle, Skeletal, Cytoskeleton
Membrane Glycoproteins, Chimera, Receptor Aggregation, Neuromuscular Junction, Membrane Proteins, Mice, Transgenic, Basement Membrane, Muscular Dystrophies, Hindlimb, Dystrophin, Cytoskeletal Proteins, Mice, Microscopy, Electron, Mutation, Animals, Humans, Laminin, Dystroglycans, Muscle, Skeletal, Cytoskeleton
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