Yan Xin, Lukas Jan, Lin Juntang, Ernst Mathias, Koczan Dirk, Witt Martin, Fuellen Georg, Wree Andreas, Rolfs Arndt, Luo Jiankai
Albrecht-Kossel-Institute for Neuroregeneration, Rostock University Medical Center, Rostock, Germany.
Institute of Anatomy I, School of Medicine University of Jena, Jena, Germany.
Histol Histopathol. 2014 Sep;29(9):1185-99. doi: 10.14670/HH-29.1185. Epub 2014 Mar 26.
Niemann-Pick type C1 (NPC1) disease is an autosomal recessive disorder characterized by dysmyelination and neurodegeneration, which can result in the death of patients in early childhood in some cases. Members of the delta-protocadherins (Pcdhs) play important roles in neurogenesis and brain development. In this study, we compared expression profiles of Pcdhs in the brain of both wild-type and Npc1 mutant mice from postnatal day (P) 9 onwards by in situ hybridization. Our data show that laminar distribution of some Pcdhs in the cerebral cortex of Npc1 mutated mice is different from that of wild-type mice. Furthermore, expressions of Pcdhs by oligodendrocytes in the corpus callosum and by Purkinje cells and granular cells in the cerebellum are strongly decreased in Npc1 mutated mice at later stages. Taken together, our data suggest that aberrant expression of Pcdhs is a pathological process accompanied by neurodegeneration in Npc1 mutant mice.
尼曼-匹克C1型（NPC1）病是一种常染色体隐性疾病，其特征为髓鞘形成异常和神经退行性变，在某些情况下可导致幼儿期患者死亡。δ-原钙黏蛋白（Pcdhs）成员在神经发生和大脑发育中发挥重要作用。在本研究中，我们通过原位杂交比较了出生后第9天（P9）起野生型和Npc1突变型小鼠大脑中Pcdhs的表达谱。我们的数据表明，Npc1突变小鼠大脑皮质中某些Pcdhs的层状分布与野生型小鼠不同。此外，在后期，Npc1突变小鼠胼胝体中少突胶质细胞以及小脑中浦肯野细胞和颗粒细胞的Pcdhs表达大幅下降。综上所述，我们的数据表明Pcdhs的异常表达是Npc1突变小鼠中伴随神经退行性变的病理过程。
