Martini R
Department of Neurology, University of Würzburg, Germany.
Ann N Y Acad Sci. 1999 Sep 14;883:273-80.
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.
P0（髓磷脂蛋白零，MPZ）是已确定的导致遗传性周围神经病的四个致病基因之一。P0的纯合或杂合无效突变体分别与一些患有与P0相关的德热里纳 - 索塔斯综合征（DSS）或1B型夏科 - 马里 - 图斯（CMT）神经病的患者具有共同的病理特征，因此可被视为相应疾病的合适动物模型。本文重点关注这些小鼠不同的组织病理学特征。这些特征包括纯合突变体中施万细胞基因的失调和轴突损失，以及杂合突变体中T淋巴细胞和巨噬细胞的显著浸润。这些组织学特征有助于理解疾病的发病机制，并可能有助于开发治疗方法。
