Connexin32 and X-linked Charcot–Marie–Tooth Disease
Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. In transfected cells, the mutant Cx32 proteins encoded...
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1997-01-01
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Series: | Neurobiology of Disease |
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doaj-748dbd05acde45bc8a7988488a1bc1e82021-03-22T08:43:26ZengElsevierNeurobiology of Disease1095-953X1997-01-0143221230Connexin32 and X-linked Charcot–Marie–Tooth DiseaseLinda Jo Bone0Suzanne M. Deschênes1Rita J. Balice-Gordon2Kenneth H. Fischbeck3Steven S. Scherer4Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; The Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; The Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; The Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; The Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104; The Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. In transfected cells, the mutant Cx32 proteins encoded by someCx32mutations fail to reach the cell surface; other mutant proteins reach the cell surface, but only one of these forms functional gap junctions. In peripheral nerve, Cx32 is localized to incisures and paranodes, regions of noncompact myelin within the myelin sheath. This localization suggests that Cx32 forms “reflexive” gap junctions that allow ions and small molecules to diffuse directly across the myelin sheath, which is a thousandfold shorter distance than the circumferential pathway through the Schwann cell cytoplasm.Cx32mutations may interrupt this shorter pathway or have other toxic effects, thereby injuring myelinating Schwann cells and their axons.http://www.sciencedirect.com/science/article/pii/S0969996197901522 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Linda Jo Bone Suzanne M. Deschênes Rita J. Balice-Gordon Kenneth H. Fischbeck Steven S. Scherer |
spellingShingle |
Linda Jo Bone Suzanne M. Deschênes Rita J. Balice-Gordon Kenneth H. Fischbeck Steven S. Scherer Connexin32 and X-linked Charcot–Marie–Tooth Disease Neurobiology of Disease |
author_facet |
Linda Jo Bone Suzanne M. Deschênes Rita J. Balice-Gordon Kenneth H. Fischbeck Steven S. Scherer |
author_sort |
Linda Jo Bone |
title |
Connexin32 and X-linked Charcot–Marie–Tooth Disease |
title_short |
Connexin32 and X-linked Charcot–Marie–Tooth Disease |
title_full |
Connexin32 and X-linked Charcot–Marie–Tooth Disease |
title_fullStr |
Connexin32 and X-linked Charcot–Marie–Tooth Disease |
title_full_unstemmed |
Connexin32 and X-linked Charcot–Marie–Tooth Disease |
title_sort |
connexin32 and x-linked charcot–marie–tooth disease |
publisher |
Elsevier |
series |
Neurobiology of Disease |
issn |
1095-953X |
publishDate |
1997-01-01 |
description |
Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. In transfected cells, the mutant Cx32 proteins encoded by someCx32mutations fail to reach the cell surface; other mutant proteins reach the cell surface, but only one of these forms functional gap junctions. In peripheral nerve, Cx32 is localized to incisures and paranodes, regions of noncompact myelin within the myelin sheath. This localization suggests that Cx32 forms “reflexive” gap junctions that allow ions and small molecules to diffuse directly across the myelin sheath, which is a thousandfold shorter distance than the circumferential pathway through the Schwann cell cytoplasm.Cx32mutations may interrupt this shorter pathway or have other toxic effects, thereby injuring myelinating Schwann cells and their axons. |
url |
http://www.sciencedirect.com/science/article/pii/S0969996197901522 |
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