Levade T, Salvayre R, Maret A, Douste-Blazy L
INSERM Unité 101, Faculté de Médecine Purpan, France.
J Inherit Metab Dis. 1988;11(2):151-7. doi: 10.1007/BF01799864.
Epstein-Barr virus-transformed lymphoid cell lines from normal individuals and from patients with Niemann-Pick disease types A, B or C were subjected to various culture conditions in order to study the source of the characteristic lysosomal storage of sphingomyelin observed in the tissues of Niemann-Pick patients. The culture medium was supplemented with a serum substitute devoid of lipoproteins or with one of the following lipid sources: fetal calf serum, human low-density lipoprotein (LDL), or human high-density lipoprotein (HDL). Storage of sphingomyelin was demonstrated under all tested culture conditions in cells deficient in acid sphingomyelinase (Niemann-Pick disease types A and B). In contrast, the sphingomyelin concentration in the lymphoid cell line from a Niemann-Pick type C patient (not deficient in sphingomyelinase) was normal. After more than 30 days in a medium devoid of sphingomyelin, the Niemann-Pick types A and B lymphoid cell lines showed accumulation of sphingomyelin about twice control. The concentrations was higher when cells were grown in a medium supplemented with lipids, particularly human LDL or HDL. These results are consistent with the hypothesis that both exogenous and endogenous sphingomyelins participate in the lysosomal storage observed in lymphoid cell lines from patients with Niemann-Pick disease types A and B.
对来自正常个体以及患有A、B或C型尼曼-匹克病患者的爱泼斯坦-巴尔病毒转化淋巴母细胞系进行了各种培养条件处理，以研究在尼曼-匹克病患者组织中观察到的鞘磷脂特征性溶酶体储存的来源。培养基中添加了不含脂蛋白的血清替代品或以下脂质来源之一：胎牛血清、人低密度脂蛋白（LDL）或人高密度脂蛋白（HDL）。在所有测试的培养条件下，酸性鞘磷脂酶缺乏的细胞（A和B型尼曼-匹克病）中均证实了鞘磷脂的储存。相比之下，C型尼曼-匹克病患者（鞘磷脂酶不缺乏）的淋巴母细胞系中的鞘磷脂浓度正常。在不含鞘磷脂的培养基中培养30多天后，A和B型尼曼-匹克病淋巴母细胞系显示鞘磷脂积累量约为对照的两倍。当细胞在添加脂质（特别是人LDL或HDL）的培养基中生长时，浓度更高。这些结果与以下假设一致，即外源性和内源性鞘磷脂均参与了A和B型尼曼-匹克病患者淋巴母细胞系中观察到的溶酶体储存。
