Levade T, Maret A, Salvayre R, Livni N, Rogalle P, Douste-Blazy L
Biochim Biophys Acta. 1986 Jul 18;877(3):415-22. doi: 10.1016/0005-2760(86)90207-9.
Human lymphoid cell lines established from normal subjects and from a Niemann-Pick disease type C patient were investigated from a triple point of view of enzymology, metabolism and ultrastructure: Sphingomyelinase activities, isoenzyme electrofocusing profiles and properties of the major enzyme were quite similar in type C and normal lymphoid cell lines. Similarly, no significant difference was observed in non-specific phosphodiesterases hydrolysing bis(methylumbelliferyl)phosphate and bis(methylumbelliferyl)pyrophosphate. The study of the lipid composition of type C cells showed no obvious accumulation of sphingomyelin or other phospholipid, but only a higher amount of glycolipids (mainly GlcCer and GbOse3Cer), as visualized by bidimensional thin-layer chromatography. Ultrastructural studies demonstrated, in type C cells, the presence of an obvious lysosomal storage of amphiphilic lipids quite similar to that observed in tissues of type C patients. These studies, which demonstrate the validity of lymphoid cell lines as an experimental model system for type C disease, agree with the current opinion that an impairment of sphingomyelin catabolism is not the primary defect in type C disease.
从酶学、代谢和超微结构三个角度，对源自正常受试者和一名C型尼曼-匹克病患者的人类淋巴细胞系进行了研究：C型和正常淋巴细胞系中的鞘磷脂酶活性、同工酶等电聚焦图谱以及主要酶的特性非常相似。同样，在水解双（甲基伞形酮基）磷酸酯和双（甲基伞形酮基）焦磷酸酯的非特异性磷酸二酯酶方面，未观察到显著差异。对C型细胞脂质组成的研究表明，未发现鞘磷脂或其他磷脂有明显积累，而是通过双向薄层色谱法观察到糖脂（主要是葡萄糖神经酰胺和GbOse3神经酰胺）含量较高。超微结构研究表明，在C型细胞中，存在明显的两亲性脂质溶酶体储存，这与在C型患者组织中观察到的情况非常相似。这些研究证明了淋巴细胞系作为C型疾病实验模型系统的有效性，与目前认为鞘磷脂分解代谢受损不是C型疾病主要缺陷的观点一致。
