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  • Title: Evidence for the deficiency of beta-glucosidase-activating factor in fibroblasts of patients with I-cell disease.
    Author: Varon R, Kleijer WJ, Thompson EJ, d'Azzo A.
    Journal: Hum Genet; 1982; 62(1):66-9. PubMed ID: 6818133.
    Abstract:
    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.
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