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Proteolipid/DM-20 proteins bearing the paralytic tremor mutation in peripheral nerves and transfected Cos-7 cells

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Abstract

Paralytic tremor (Plp-pt) is a missense mutation of the myelin proteolipid gene (Plp) in rabbits. The myelin yield in the Plp-pt brain is reduced and the protein and lipid composition of central nervous system (CNS) myelin is abnormal. We studied the intracellular transport of the normal and Plp-pt mutant PLP and DM-20 in transiently transfected Cos-7 cells. While the mutant PLP accumulates in the rough endoplasmic reticulum and does not reach the plasma membrane, the spliced isoform of PLP, mutant DM-20, is normally transported to the cell surface and integrated into the membrane. Analysis of rabbit sciatic nerves revealed that concentration of peripheral nervous system (PNS) myelin proteins is normal in Plp-pt myelin. In the PNS like in the CNS, the level of Plp gene products is subnormal. But this does not affect myelination, in the PNS where PLP, present in low concentration, is not a structural component of compact myelin. The normal level of Plp gene expression in Schwann cells is low and these results suggest that, in the Plp-pt PNS, Schwann cell function is not affected by the deficiency in PLP and/or the impairment of intracellular PLP transport.

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Authors and Affiliations

  1. Laboratory of Neurochemistry, Department of Pediatrics, CHUV, 1011, Lausanne, Switzerland

    Mirjana Tosic, Michel Dolivo & Jena-Marie Matthieu

  2. Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, NY

    Alexander Gow & Robert A. Lazzarini

  3. Department of Neurochemistry, Centre of Medical Research, Polish Academy of Sciences, Warsaw, Poland

    Krystyna Domanska-Janik

Authors
  1. Mirjana Tosic
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  2. Alexander Gow
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  3. Michel Dolivo
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  4. Krystyna Domanska-Janik
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  5. Robert A. Lazzarini
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  6. Jena-Marie Matthieu
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Special issue dedicated to Dr Marion E. Smith.

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Tosic, M., Gow, A., Dolivo, M. et al. Proteolipid/DM-20 proteins bearing the paralytic tremor mutation in peripheral nerves and transfected Cos-7 cells. Neurochem Res 21, 423–430 (1996). https://doi.org/10.1007/BF02527706

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