Evidence for the deficiency of beta-glucosidase-activating factor in fibroblasts of patients with I-cell disease.
Reduced activity of beta-glucosidase was shown in the cultured skin fibroblasts of four patients with I-cell disease when the enzyme was tested without the use of detergents. In the presence of taurocholate and triton X100 beta-glucosidase activity was normal. This suggested a deficiency of a beta-glucosidase activating factor in I-cell fibroblasts rather than of the enzyme itself. The deficiency of beta-glucosidase activity was corrected to some extent by mixing cell lysates, and more effectively by cocultivation and fusion of I-cell disease and Gaucher fibroblasts. These results present evidence for the presence of a beta-glucosidase-activating factor in normal and Gaucher fibroblasts. In fibroblasts of patients with I-cell disease this activator is probably deficient, as is the case for most lysosomal enzymes.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D005776:Gaucher Disease / Q000378:metabolism; D005959:Glucosidases / Q000378:metabolism*; D006023:Glycoproteins; D006801:Humans; D066298:In Vitro Techniques; D009081:Mucolipidoses / Q000378:metabolism*; D011506:Proteins / Q000378:metabolism*; D049231:Saposins; D012867:Skin / Q000166:cytology; D001617:beta-Glucosidase / Q000378:metabolism*
D006023:Glycoproteins; D011506:Proteins; D049231:Saposins; D005959:Glucosidases; D001617:beta-Glucosidase