Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotyp

Steck, Andreas J. and Erne, Beat and Pareyson, Davide and Sghirlanzoni, Angelo and Taroni, Franco and Schaeren-Wiemers, Nicole. (2006) Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotyp. Journal of the peripheral nervous system : JPNS, Vol. 11, H. 1. pp. 61-66.

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Official URL: http://edoc.unibas.ch/dok/A5844608

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Mutations in the gene encoding for myelin protein zero (MPZ) cause inherited demyelinating peripheral neuropathies of different severity. The molecular and cellular mechanisms by which the MPZ mutations cause neuropathy are incompletely understood. We investigated MPZ, myelin basic protein, and peripheral myelin protein 22 (PMP22) protein expression levels in a nerve biopsy of a Charcot-Marie-Tooth type 1B patient heterozygous for the Val 102 frame-shift mutation. We demonstrate by quantitative immunohistochemical as well as by Western blot analyses that MPZ expression levels were not reduced in myelin membranes, a finding that is in accordance with the mild phenotype of this patient. Our data show that heterozygous 'loss-of-function' of MPZ may not necessarily lead to reduced protein levels. In conclusion, we demonstrate that careful analysis of protein expression levels in peripheral nerve tissues provides important information with respect to the understanding of the molecular basis of these neuropathies.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Neurobiology (Schaeren-Wiemers)
UniBasel Contributors:Schaeren-Wiemers, Nicole
Item Type:Article, refereed
Article Subtype:Book Review
Note:Publication type according to Uni Basel Research Database: Journal item
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Last Modified:08 Jun 2012 06:55
Deposited On:08 Jun 2012 06:41

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