BIOCHEMICAL-STUDIES IN NIEMANN-PICK DISEASE .1. MAJOR SPHINGOLIPIDS OF LIVER AND SPLEEN
BIOCHEMICAL-STUDIES IN NIEMANN-PICK DISEASE .1. MAJOR SPHINGOLIPIDS OF LIVER AND SPLEEN
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DOI：
10.1016/0005-2760(83)90218-7
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发表时间：
1983-01-01
期刊：
影响因子：
--
通讯作者：
VANIER, MT
中科院分区：
文献类型：
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作者：
VANIER, MT
在12例A型或B型尼曼-匹克病患者的肝脏和脾脏标本中，鞘磷脂比正常值增加15- 45倍，总磷脂增加4- 10倍，胆固醇增加3- 6倍。两种类型的储存模式在性质上相似，但B型的蓄积程度较低。在C型尼曼-匹克病（16例）中，肝鞘磷脂增加3.5倍，脾鞘磷脂增加6倍。在所有形式的尼曼-匹克病，双（单酰基甘油）磷酸显着升高。对6例C型、3例B型和2例A型患者进行了鞘糖脂研究。在所有类型的尼曼-匹克病中，葡萄糖神经酰胺的增加幅度最大。在C型中记录了最高值，肝脏和脾脏中的浓度分别为正常浓度的14倍和35倍。其他中性鞘糖脂，特别是乳糖神经酰胺，也升高;神经节苷脂GM 3增加2至4倍。鞘脂的脂肪酸谱仅显示出微小的改变。与在A型和B型尼曼-匹克病的肝脏和脾脏中发现的主要鞘磷脂储存相反，C型尼曼-匹克病中脂质储存的主要特征是没有任何普遍的积累，因此，这种疾病作为原发性鞘磷脂储存病的概念没有成立。
In liver and spleen specimens of 12 patients with Niemann-Pick disease types A or B, sphingomyelin was increased 15- to 45-fold, total phospholipids 4- to 10-fold and cholesterol 3- to 6-fold over the normal values. The storage pattern was qualitatively similar in both types but the degree of accumulation was less in type B. In Niemann-Pick disease type C (16 cases), sphingomyelin was increased 3.5-fold in liver and 6-fold in spleen. In all forms of Niemann-Pick disease, bis(monoacylglycero)phosphate was markedly elevated. Glycosphingolipids were studied in 6 cases with type C, 3 cases with type B and 2 cases with type A. Glucosylceramide showed the largest increase from the normal pattern in all types of Niemann-Pick disease. Highest values were recorded in type C, 14- and 35-fold normal concentrations in liver and spleen, respectively. Other neutral glycosphingolipids, particularly lactosylceramide, were also elevated; a 2- to 4-fold increase of ganglioside GM3 occurred. The fatty acid profiles of the sphingolipids showed only minor alterations. In contrast to the largely dominating sphingomyelin storage found in liver and spleen of Niemann-Pick disease types A and B, the major characteristic of the lipid storage in Niemann-Pick disease type C was the absence of any prevailing accumulation and, thus, the concept of this disorder as a primary sphingomyelin storage disease is not founded.