Connexin32 and X-linked Charcot–Marie–Tooth Disease
| Autor: | Suzanne M. Deschênes, Kenneth H. Fischbeck, Rita J. Balice-Gordon, Steven S. Scherer, Linda Jo Bone |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
X Chromosome
Genetic Linkage urogenital system Chemistry Cell Mutant Gap junction Transfection Connexins lcsh:RC321-571 Cell biology Tooth disease Myelin medicine.anatomical_structure nervous system Neurology Schwann cell cytoplasm Charcot-Marie-Tooth Disease medicine Animals Humans lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Gene |
| Zdroj: | Neurobiology of Disease, Vol 4, Iss 3, Pp 221-230 (1997) |
| ISSN: | 0969-9961 |
| DOI: | 10.1006/nbdi.1997.0152 |
| Popis: | Mutations in the gap junction gene connexin32 ( 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 some Cx32 mutations 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. Cx32 mutations may interrupt this shorter pathway or have other toxic effects, thereby injuring myelinating Schwann cells and their axons. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect