Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.2.1.31 (beta-glucuronidase)
 7,680 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study of the lysosomal hydrolases bete-galactosidase, beta-glucuronidase, N-acetyl-beta-D-glucosaminidase, and arylsulphatases A and B has been carried out on fibroblasts cultured from seven patients with cystinosis and eight control subjects. beta-Galactosidase activity was found to be consistently lower in cells derived from cystinotics, while the other enzymes studied showed no significant differences between normals and cystinotics.
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PMID:Activities of acid hydrolases in fibroblasts from normal and cystinotic children. 84 94

beta-Galactosidase activity but not beta-glucuronidase, N-acetyl-beta-D-galactosaminidase or arylsulphatase A activity, is known to be significantly lower in cultured human skin fibroblasts from patients with cystinosis than in cells from control subjects. Incubation of cell homogenates with disulphide or thiol compounds did not affect beta-galactosidase activity, suggesting that decreased beta-galactosidase activity in affected cells was not caused by the presence of inhibiting substances or absence of activating substances. Incubating cells with 0.5 or 1.0 mmol/l cysteamine, a substance used in the clinical treatment of cystinosis because it depletes cells of excess cystine, greatly decreased beta-galactosidase activity in both cystinotic and normal cells. This effect is shown to result from enzyme instability in lysosomes with raised pH and increased thiol concentration. Thus, cysteamine, although effective in depleting cystinotic cells of excess cystine, may have the undesired side-effect of severely decreasing lysosomal beta-galactosidase.
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PMID:A study of the low beta-galactosidase activity in cystinotic fibroblasts: effects of cysteamine. 391 71