Document Detail

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.
MedLine Citation:
PMID:  22526844     Owner:  NLM     Status:  MEDLINE    
Gaucher disease (GD) is the most common lysosomal disorder and is caused by an inherited autosomal recessive deficiency in β-glucocerebrosidase. This enzyme, like other glycohydrolases involved in glycosphingolipid (GSL) metabolism, is present in both plasma membrane (PM) and intracellular fractions. We analyzed the activities of CBE-sensitive β-glucosidase (GBA1) and AMP-DNM-sensitive β-glucosidase (GBA2) in total cell lysates and PM of human fibroblast cell lines from control (normal) subjects and from patients with GD clinical types 1, 2, and 3. GBA1 activities in both total lysate and PM of GD fibroblasts were low, and their relative percentages were similar to those of control cells. In contrast, GBA2 activities were higher in GD cells than in control cells, and the degree of increase differed among the three GD types. The increase of GBA2 enzyme activity was correlated with increased expression of GBA2 protein as evaluated by QRT-PCR. Activities of β-galactosidase and β-hexosaminidase in PM were significantly higher for GD cells than for control cells and also showed significant differences among the three GD types, suggesting the occurrence of cross-talk among the enzymes involved in GSL metabolism. Our findings indicate that the profiles of glycohydrolase activities in PM may provide a valuable tool to refine the classification of GD into distinct clinical types.
Massimo Aureli; Rosaria Bassi; Nicoletta Loberto; Stefano Regis; Alessandro Prinetti; Vanna Chigorno; Johannes M Aerts; Rolf G Boot; Mirella Filocamo; Sandro Sonnino
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-04-19
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  35     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-15     Completed Date:  2013-04-05     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1081-91     Citation Subset:  IM    
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MeSH Terms
Cell Line
Cell Membrane / enzymology
Fibroblasts / enzymology
Gaucher Disease / classification,  enzymology*,  genetics
Glucosylceramidase / metabolism
Glycoside Hydrolases / metabolism*
beta-Glucosidase / metabolism
Grant Support
Reg. No./Substance:
EC 3.2.1.-/Glycoside Hydrolases; EC; EC protein, human; EC

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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