甘露糖苷贮积症：突变成纤维细胞中两种酸性α-甘露糖苷酶形式的分离与特性分析
Mannosidosis: separation and characterization of two acid alpha-mannosidase forms in mutant fibroblasts.
作者信息
Burton B K, Nadler H L
出版信息
Enzyme. 1978;23(1):29-35. doi: 10.1159/000458546.
Two acidic forms of alpha-mannosidase activity, A and B, are separated and characterized in fibroblasts from controls and patients with mannosidosis. In normal cells, A and B differ in adsorption on DEAE-cellulose, electrophoretic mobility, stability at 70 degrees C and resistance to freezing at --20 degrees C. In 5 of 6 mutant cell lines, A and B both exhibit altered Km's for artificial substrates and decreased thermal stability. Zn2+ has no effect on A or B in mutant or normal cells. In contrast, Co2+ slightly inhibits B in normal cells but markedly enhances the activity of B in mutant cells. The mutation in mannosidosis clearly results in an alteration in the biochemical characteristics of both major acidic forms of alpha-mannosidase.
在对照者和成甘露糖苷贮积症患者的成纤维细胞中，分离并鉴定出两种酸性形式的α-甘露糖苷酶活性，即A和B。在正常细胞中，A和B在二乙氨基乙基纤维素上的吸附、电泳迁移率、70℃下的稳定性以及在-20℃下的抗冻性方面存在差异。在6个突变细胞系中的5个中，A和B对人工底物的Km值均发生改变，且热稳定性降低。锌离子对突变细胞或正常细胞中的A或B均无影响。相比之下，钴离子在正常细胞中对B有轻微抑制作用，但在突变细胞中能显著增强B的活性。成甘露糖苷贮积症中的突变显然导致了α-甘露糖苷酶两种主要酸性形式的生化特性发生改变。
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