Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease).
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.
D002402:Cathepsin D; D002403:Cathepsins / Q000032:analysis; D002460:Cell Line; D005347:Fibroblasts / Q000201:enzymology; D005959:Glucosidases / Q000096:biosynthesis*; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology*; D006801:Humans; D007930:Leucine / Q000378:metabolism; D008715:Methionine / Q000378:metabolism; D013997:Time Factors; D000520:alpha-Glucosidases / Q000096:biosynthesis*
D008715:Methionine; D005959:Glucosidases; D000520:alpha-Glucosidases; D002403:Cathepsins; D002402:Cathepsin D; D007930:Leucine