Assay of the beta-glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with the Norrbottnian type of Gaucher disease.
Fibroblasts from 13 homozygotes and 27 obligate heterozygotes with the Norrbottnian type of Gaucher disease and 17 controls were cultivated and assayed with five beta-glucosidase methods, two with D-[glucose-U-14C] glucosylceramide and three with the artificial substrate 4-methylumbelliferyl-beta-glucoside. Two marker enzymes were assayed on the same cell samples, 4-methylumbelliferyl-beta-galactosidase and N-acetyl-beta-glucosaminidase. The beta-glucosidase activity of cultured fibroblasts, as measured with all five beta-glucosidase methods, was significantly lower (P < 0.001) for Gaucher homozygotes than heterozygotes. There was no overlap between fibroblasts from Gaucher homozygotes and the others with any of the beta-glucosidase methods used. The beta-glucosidase activity was also significantly lower (P < 0.001) for Gaucher heterozygotes than controls. However, none of the five beta-glucosidase assays differentiated between all Gaucher heterozygotes and controls, as several overlaps occurred in each assay.
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D005347:Fibroblasts / Q000201:enzymology*; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics; D005959:Glucosidases / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D013548:Sweden; D001617:beta-Glucosidase / Q000235:genetics*
D005959:Glucosidases; D001617:beta-Glucosidase