II型糖原贮积病（庞贝氏病）迟发型中酸性α-葡萄糖苷酶的生物合成

Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease).

作者信息

Steckel F, Gieselmann V, Waheed A, Hasilik A, von Figura K, Oude Elferink R, Kalsbeek R, Tager J M

出版信息

FEBS Lett. 1982 Dec 13;150(1):69-76. doi: 10.1016/0014-5793(82)81306-9.

Abstract

Cultured human skin fibroblasts from control persons and from patients with the generalized and late-onset forms of Pompe's disease were labelled with radioactive leucine and the incorporation of radioactivity into acid alpha-glucosidase and cathepsin D was analysed by immunoprecipitation, gel electrophoresis and fluorography. When the labelling was carried out for 6-12 h in the presence of NH4Cl, the labelling of secreted alpha-glucosidase relative to that of secreted cathepsin D in fibroblasts from patients with the late-onset form of Pompe's disease was less than 15% of that in fibroblasts from control persons. However, when the fibroblasts were labelled for less than 1 h, the relative rate of incorporation of radioactivity into acid alpha-glucosidase was rather similar in the two types of fibroblasts. In fibroblasts from patients with the generalized form of Pompe's disease no incorporation of radioactivity into acid alpha-glucosidase could be detected.

摘要

用放射性亮氨酸标记来自对照人员以及患有晚发型和全身型庞贝氏病患者的培养人皮肤成纤维细胞，并通过免疫沉淀、凝胶电泳和荧光自显影分析放射性掺入酸性α-葡萄糖苷酶和组织蛋白酶D的情况。当在氯化铵存在的情况下进行6至12小时的标记时，晚发型庞贝氏病患者的成纤维细胞中分泌型α-葡萄糖苷酶的标记相对于分泌型组织蛋白酶D的标记不到对照人员成纤维细胞的15%。然而，当成纤维细胞标记时间少于1小时时，两种类型的成纤维细胞中放射性掺入酸性α-葡萄糖苷酶的相对速率相当相似。在全身型庞贝氏病患者的成纤维细胞中，未检测到放射性掺入酸性α-葡萄糖苷酶。