Browsing by Subject "NPC1"

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    Aberrant expressions of delta-protocadherins in the brain of Npc1 mutant mice
    (F. Hernández y Juan F. Madrid. Universidad de Murcia: Departamento de Biología Celular e Histología, 2014) Yan, Xin; Lukas, Jan; Lin, Juntang; Ernst, Mathias; Koczan, Dirk; Witt, Martin; Fuellen, Georg; Wree, Andreas; Rolfs, Arndt; Luo, Jiankai
    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 between 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.
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    Altered myelination in the Niemann-Pick type C1 mutant mouse
    (Universidad de Murcia. Departamento de Biología Celular e Histología, 2018) Qiao, Liang; Yang, Enhui; Luo, Jiankai; Lin, Juntang; Yan, Xin
    Niemann–Pick type C1 (NPC1) disease is a lysosomal storage disorder caused by mutation of Npc1 or Npc2 gene, resulting in various progressive pathological features. Myelin defection is a major pathological problem in Npc1 mutant mice; however, impairment of myelin proteins in the developing brain is still incompletely understood. In this study, we showed that the expression of myelin genes and proteins is strongly inhibited from postnatal day 35 onwards including reduced myelin basic protein (MBP) expression in the brain. Furthermore, myelination characterized by MBP immunohistochemistry was strongly perturbed in the forebrain, moderately in the midbrain and cerebellum, and slightly in the hindbrain. Our results demonstrate that mutation of the Npc1 gene is sufficient to cause severe and progressive defects in myelination in the mouse brain.