Abstract
Several dystrophin isoforms are known. The full-length isoform is present in striated and smooth muscles and neurons and its lack causes Duchenne Muscular Dystrophy, a progressive myopathy accompanied by mild cognitive deficits and gastrointestinal dismotility. An ultrastructural study was undertaken in the colon of mice lacking full-length dystrophin and maintaining shorter isoforms (mdx mice) to ascertain whether myenteric neurons have an altered morphology. Results showed a significant increase in the size of synaptic vesicle and in the number of recycling vesicles. An enlargement of endoplasmic reticulum cisternae in a subpopulation of neurons was also seen. Immunohistochemistry confirmed that the shorter isoforms were expressed in mdx mice myenteric neurons. These findings indicate the presence of a neuropathy at the myenteric plexus which might justify the defective neuronal control of gastrointestinal motility reported for these animals and which might be correlated with full-length dystrophin loss, since the shorter isoforms are present.
Copyright 2003 Wiley-Liss, Inc.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Colon / innervation*
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Colon / pathology
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Colon / physiopathology
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Disease Models, Animal
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Dystrophin / deficiency*
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Dystrophin / genetics
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Endoplasmic Reticulum / metabolism
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Endoplasmic Reticulum / pathology
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Endoplasmic Reticulum / ultrastructure
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Gastrointestinal Diseases / genetics
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Gastrointestinal Diseases / pathology
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Gastrointestinal Diseases / physiopathology
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Gastrointestinal Motility / genetics
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Immunohistochemistry
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Intracellular Membranes / metabolism
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Intracellular Membranes / pathology
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Intracellular Membranes / ultrastructure
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Mice
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Mice, Inbred C57BL
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Mice, Inbred mdx
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Microscopy, Electron
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Molecular Weight
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Muscular Dystrophy, Duchenne / complications
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Mutation / genetics
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Myenteric Plexus / metabolism*
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Myenteric Plexus / pathology
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Myenteric Plexus / physiopathology
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Neurons / metabolism*
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Neurons / pathology
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Neurons / ultrastructure
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Presynaptic Terminals / metabolism
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Presynaptic Terminals / pathology
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Presynaptic Terminals / ultrastructure
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Protein Isoforms / genetics
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Protein Isoforms / metabolism
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Protein Transport / genetics
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Synaptic Vesicles / metabolism*
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Synaptic Vesicles / pathology
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Synaptic Vesicles / ultrastructure
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Transport Vesicles / metabolism
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Transport Vesicles / pathology
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Transport Vesicles / ultrastructure
Substances
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Dystrophin
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Protein Isoforms