ACID SPHINGOMYELINASE DEFICIENT MICE - A MODEL OF TYPE-A AND TYPE-B NIEMANN-PICK DISEASE
ACID SPHINGOMYELINASE DEFICIENT MICE - A MODEL OF TYPE-A AND TYPE-B NIEMANN-PICK DISEASE
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DOI：
10.1038/ng0795-288
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发表时间：
1995-07-01
期刊：
影响因子：
30.8
通讯作者：
SCHUCHMAN, EH
中科院分区：
文献类型：
--
作者：
HORINOUCHI, K;ERLICH, S;SCHUCHMAN, EH
A 型和 B 型尼曼匹克病 (NPD) 是由酸性鞘磷脂酶 (ASM) 活性缺陷引起的。通过基因靶向创建了 NPD 动物模型。在受影响的动物中，这种疾病会发生严重的神经退行性病变，并在八个月大时死亡。对这些动物的分析表明，它们的组织没有可检测到的 ASM 活性，血液胆固醇水平以及肝脏和大脑中的鞘磷脂升高，小脑萎缩和浦肯野细胞明显缺乏。显微镜分析揭示了网状内皮器官中的“NPD 细胞”和大脑中特征性的 NPD 病变。因此，ASM缺陷小鼠对于研究NPD的发病机制和治疗，以及研究ASM在信号转导和细胞凋亡中的作用具有重要价值。
Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM). An animal model of NPD has been created by gene targeting. In affected animals, the disease followed a severe, neurodegenerative course and death occurred by eight months of age. Analysis of these animals showed their tissues had no detectable ASM activity, the blood cholesterol levels and sphingomyelin in the liver and brain were elevated, and atrophy of the cerebellum and marked deficiency of Purkinje cells was evident. Microscopic analysis revealed 'NPD cells' in reticuloendothelial organs and characteristic NPD lesions in the brain. Thus, the ASM deficient mice should be of great value for studying the pathogenesis and treatment of NPD, and for investigations into the role of ASM in signal transduction and apoptosis.