P0-deficient knockout mice as tools to understand pathomechanisms in Charcot-Marie-Tooth 1B and P0-related Déjérine-Sottas syndrome.
P0 (mylin protein zero, MPZ) is one of the four identified culprit genes for hereditary peripheral neuropathies. Homo- or heterozygous null mutants for P0 share pathological features with some patients suffering from P0-related Déjérine-Sottas-Syndrome (DSS) or Charcot-Marie-Tooth (CMT) neuropathy, type 1B, respectively, and can thus be considered as appropriate animal models for the corresponding diseases. This article focuses on distinct histopathological features in these mice. Such features include dysregulation of Schwann cell genes and axonal loss in homozygous mutants and significant infiltration of T-lymphocytes and macrophages in heterozygous mutants. These histological characteristics are instrumental in understanding the pathogenesis of the disease and may help in developing treatments.
Martini
R
R
Department of Neurology, University of Würzburg, Germany. neuk176@rzkli.uni-wuerzburg.de
D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology*; D004195:Disease Models, Animal; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics / Q000473:pathology*; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D018993:Myelin P0 Protein / Q000235:genetics*
D018993:Myelin P0 Protein