Biosynthesis of acid α‐glucosidase in late‐onset forms of glycogenosis type II (Pompe's disease)

FEBS Letters

Elferink, Ronald Oude¹  Hasilik, Andrej²  von Figura, Kurt²  Kalsbeek, Roelof¹  Steckel, Friedhelm²  Tager, Joseph M.¹  Gieselmann, Volkmar²  Waheed, Abdul² 

[1] Laboratorium voor Biochemie, Universiteit van Amsterdam, Plantage Muidergracht 12, 1018 TV Amsterdam, The Netherlands;Physiologisch-Chemisches Institut, Westfälische Wilhelms-Universität, Waldeyerstrasse 15, 44 Münster (Westf.), FRG

关键词: Acid α-glucosidase;    Pompe's disease;    Lysosomal α-glucosidase;    Glycogenosis type II;    Lysosomal enzyme synthesis;   

DOI  :  10.1016/0014-5793(82)81306-9

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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 α-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 α-glucosidase relative to that of secreted cathepsin D in fibroblasts from patients with the late-onset form of Pompe's disease was < 15% of that in fibroblasts from control persons. However, when the fibroblasts were labelled for < 1 h, the relative rate of incorporation of radioactivity into acid α-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 α-glucosidase could be detected.

【 授权许可】

Unknown