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Normal expression of myelin protein zero with frame‐shift mutation correlates with mild phenotype
Author(s) -
Steck Andreas J.,
Erne Beat,
Pareyson Davide,
Sghirlanzoni Angelo,
Taroni Franco,
SchaerenWiemers Nicole
Publication year - 2006
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/j.1085-9489.2006.00064.x
Subject(s) - myelin , peripheral myelin protein 22 , phenotype , western blot , mutation , immunohistochemistry , peripheral neuropathy , gene , pathology , biology , myelin basic protein , protein expression , microbiology and biotechnology , genetics , medicine , neuroscience , endocrinology , central nervous system , diabetes mellitus
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.