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Biosynthesis of acid α‐glucosidase in late‐onset forms of glycogenosis type II (Pompe's disease)
Author(s) -
Steckel Friedhelm,
Gieselmann Volkmar,
Waheed Abdul,
Hasilik Andrej,
von Figura Kurt,
Elferink Ronald Oude,
Kalsbeek Roelof,
Tager Joseph M.
Publication year - 1982
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(82)81306-9
Subject(s) - cathepsin d , labelling , cathepsin , biochemistry , immunoprecipitation , leucine , chemistry , biosynthesis , glycogen storage disease type ii , fibroblast , microbiology and biotechnology , enzyme , biology , amino acid , disease , medicine , gene , enzyme replacement therapy , in vitro
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 NH 4 Cl, 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.