Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1987-01

AUTHORS

R. Willemsen, J. M. von Dongen, E. I. Ginns, H. J. Sips, A. W. Schram, J. M. Tager, J. A. Barranger, A. J. J. Reuser

ABSTRACT

The subcellular localization of glucocerebrosidase was studied in cultured skin fibroblasts from eight patients with Gaucher's disease. The enzyme, in situ, was visualized under the electron microscope by incubating ultrathin frozen sections of fibroblasts with antibodies against glucocerebrosidase, followed by a second incubation with goat anti- (rabbit IgG) coupled to colloidal gold. In control cells, most of the gold label was found in lysosomes, associated with the membrane. Labelling of the rough endoplasmic reticulum (RER) and Golgi complex was also observed. In fibroblasts from three Gaucher's disease patients without neurological symptoms (type 1 disease), a near normal amount of cross-reactive material (CRM) was detected in lysosomes, but in a fourth such patient, the lysosomal CRM was reduced. Little lysosomal glucocerebrosidase was detected in cells from patients with the acute neuronopathic form (type 2) or the subacute neuronopathic form (type 3) of Gaucher's disease. CRM in lysosomes correlates with amount of mature, 59 kDA glucocerebrosidase which is undetectable in type 2 and type 3 Gaucher's disease cell lines. These findings demonstrate that different mutations in the gene for glucocerebrosidase result in mutant proteins that have different intracellular localizations. They also suggest that there is a relationship between the amount of cross-reactive material in the lysosomes and the phenotypic expression of the disease. More... »

PAGES

44-51

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00314009

DOI

http://dx.doi.org/10.1007/bf00314009

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035609112

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/3819786


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