Artikel: PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells.
2000 Band 7, Heft 6 Pt B, Seite(n) 561–573
Abstract: ... in the trembler (Tr) and trembler-J (Tr-J) mice and in some humans with Charcot-Marie-Tooth disease. We have ... generated replication-defective adenoviruses containing epitope-tagged, wild-type-, Tr-, or Tr-J-PMP22 ... successfully transported to compact myelin, whereas the Tr and the Tr-J mutant proteins are retained ...
| Abstract | Missense mutations in the murine peripheral myelin protein-22 gene (Pmp22) underly the neuropathies in the trembler (Tr) and trembler-J (Tr-J) mice and in some humans with Charcot-Marie-Tooth disease. We have generated replication-defective adenoviruses containing epitope-tagged, wild-type-, Tr-, or Tr-J-PMP22 bicistronic with the Lac-Z reporter gene. These viruses were microinjected into the sciatic nerves of 10-day-old Sprague-Dawley rats and, later, analyzed by immunohistochemistry to determine the distribution of mutant protein in infected myelinating Schwann cells. We found that epitope-tagged, wild-type PMP22 is successfully transported to compact myelin, whereas the Tr and the Tr-J mutant proteins are retained in cytoplasmic compartment, colocalizing with the endoplasmic reticulum. These results provide in vivo evidence that the pathogenesis of the Tr and Tr-J mutations are most likely a function of abnormal retention within the endoplasmic reticulum of myelinating Schwann cells. |
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| Mesh-Begriff(e) | Adenoviridae/genetics ; Animals ; Cell Line ; Charcot-Marie-Tooth Disease/etiology ; Charcot-Marie-Tooth Disease/genetics ; Endoplasmic Reticulum/metabolism ; Epitopes/genetics ; Genes, Reporter ; Genetic Vectors/administration & dosage ; Genetic Vectors/genetics ; Humans ; Immunohistochemistry ; Intracellular Fluid/metabolism ; Mice ; Mice, Neurologic Mutants/genetics ; Microinjections ; Mutation, Missense/genetics ; Myelin Proteins/genetics ; Myelin Proteins/metabolism ; Myelin Sheath/metabolism ; Protein Transport/genetics ; Rats ; Rats, Sprague-Dawley ; Schwann Cells/cytology ; Schwann Cells/metabolism ; Sciatic Nerve/drug effects ; Sciatic Nerve/metabolism ; Sciatic Nerve/pathology |
| Chemische Substanzen | Epitopes ; Myelin Proteins ; PMP22 protein, human ; Pmp22 protein, mouse ; Pmp22 protein, rat |
| Sprache | Englisch |
| Erscheinungsdatum | 2000-12 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 1211786-9 |
| ISSN | 1095-953X ; 0969-9961 |
| ISSN (online) | 1095-953X |
| ISSN | 0969-9961 |
| DOI | 10.1006/nbdi.2000.0323 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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