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The Journal of Neuroscience, January 15, 1998, 18(2):731-740

Overloaded Endoplasmic Reticulum-Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22

Donatella D'Urso1, Reinhard Prior1, Regine Greiner-Petter1, Anneke A. W. M. Gabreëls-Festen2, and Hans Werner Müller1

1 Molecular Neurobiology Laboratory, Department of Neurology, Heinrich-Heine-University, 40225 Düsseldorf, Germany, and 2 Institute of Neurology, University Hospital Nijmegen, 6500 Nijmegen, The Netherlands

Nonconservative point mutations of the peripheral myelin protein 22 (PMP22) are associated with Charcot-Marie-Tooth type 1A disease, the most common inherited peripheral neuropathy in humans, and with the Trembler J (TrJ) and Trembler (Tr) alleles in mice. We investigated the intracellular transport of wild-type PMP22 and its TrJ and Tr mutant forms in Schwann cells and in a non-neuronal cell line. In contrast to wild type, mutant proteins were not inserted into the plasma membrane and accumulated in the endoplasmic reticulum and Golgi compartments. Coexpression of each mutant with wild-type PMP22 confirmed the different intracellular distribution of the mutant forms, indicating that neither the TrJ nor Tr protein has a dominant-negative effect on the cellular distribution of wild-type PMP22. Accumulation of PMP22 immunoreactivity in the cell body of myelinating Schwann cells was also observed in nerve biopsies obtained from CMT1A patients carrying the TrJ point mutation. We propose that impaired trafficking of mutated PMP22 affects Schwann cell physiology leading to myelin instability and loss.

Key words: Schwann cell; PMP22; Trembler J; Trembler; Charcot-Marie-Tooth disease; transfection; chimeric protein; cellular sorting; myelin

Copyright © 1998 Society for Neuroscience  0270-6474/98/182731-10$05.00/0


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