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

Andreas J. Steck, Beat Erne, Davide Pareyson, Angelo Sghirlanzoni, Franco Taroni, Nicole Schaeren-Wiemers

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)61-66
Number of pages6
JournalJournal of the Peripheral Nervous System
Issue number1
Publication statusPublished - Mar 2006


  • Demyelinating disorder
  • Mutation
  • Myelin protein zero
  • Neuropathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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