Proteolipid/DM-20 proteins bearing the paralytic tremor mutation in peripheral nerves and transfected Cos-7 cells |
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Authors: | Mirjana Tosic Alexander Gow Michel Dolivo Krystyna Domanska-Janik Robert A Lazzarini Jena-Marie Matthieu |
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Institution: | (1) Laboratory of Neurochemistry, Department of Pediatrics, CHUV, 1011 Lausanne, Switzerland;(2) Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, NY;(3) Department of Neurochemistry, Centre of Medical Research, Polish Academy of Sciences, Warsaw, Poland |
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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.
Special issue dedicated to Dr Marion E. Smith. |
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Keywords: | PNS myelin proteolipid protein intracellular transport dysmyelinating mutants |
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