Levade T, Salvayre R, Douste-Blazy L
J Clin Chem Clin Biochem. 1986 Apr;24(4):205-20.
In the first part the properties of normal mammalian sphingomyelinases are reviewed: The lysosomal acid sphingomyelinase is a polymeric glycoprotein (subunit Mr between 28 000 and 70 000) which hydrolyses natural sphingomyelin, coloured and fluorescent semi-synthetic analogues (trinitrophenyl-aminolauryl-sphingomyelin and pyrenedecanoyl-sphingomyelin) and the synthetic analogue 2-N-hexadecanoylamido-nitrophenyl-phosphorylcholine. The suitability of these substrates and of synthetic fluorescent derivatives of methylumbelliferone is discussed. The effect of lipids, detergents and other effectors on the enzyme activity is also described. The neutral sphingomyelinase from brain tissue, localized in cell membranes, has a high Mr (160 000 and 600 000), is heat labile, hydrolyses sphingomyelin and its coloured and fluorescent analogues, but not 2-N-hexadecanoylamido-nitrophenyl-phosphorylcholine. A new method is available for determining enzyme activity in the intact cell through the utilization of endogenous or exogenous sphingomyelin as substrate. In the second part of the review, the classification of Niemann-Pick disease, the characteristic features of each type and the biological tools used for the diagnosis are reported. Experimental models (animal models and cellular models in culture) are reviewed with a particular attention to a new model system, Epstein-Barr virus-transformed lymphoid cell lines.
在第一部分中，对正常哺乳动物鞘磷脂酶的特性进行了综述：溶酶体酸性鞘磷脂酶是一种聚合糖蛋白（亚基分子量在28000至70000之间），可水解天然鞘磷脂、有色和荧光半合成类似物（三硝基苯基 - 氨基月桂酰鞘磷脂和芘癸酰鞘磷脂）以及合成类似物2 - N - 十六烷酰氨基硝基苯基 - 磷酰胆碱。讨论了这些底物以及甲基伞形酮的合成荧光衍生物的适用性。还描述了脂质、去污剂和其他效应物对酶活性的影响。脑组织中的中性鞘磷脂酶定位于细胞膜，分子量较高（160000和600000），对热不稳定，可水解鞘磷脂及其有色和荧光类似物，但不能水解2 - N - 十六烷酰氨基硝基苯基 - 磷酰胆碱。有一种新方法可通过利用内源性或外源性鞘磷脂作为底物来测定完整细胞中的酶活性。在综述的第二部分中，报告了尼曼 - 匹克病的分类、每种类型的特征以及用于诊断的生物学工具。对实验模型（动物模型和培养中的细胞模型）进行了综述，特别关注了一种新的模型系统，即爱泼斯坦 - 巴尔病毒转化的淋巴母细胞系。
