Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease.
Cell Struct Funct
; 49(1): 1-10, 2024 Jan 23.
Article
em En
| MEDLINE
| ID: mdl-38072450
ABSTRACT
Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblasts were susceptible to damage when exposed to a lysosomotropic agent. Moreover, the susceptibility of lysosomal membranes to a lysosomotropic agent could be partly restored by exogenous expression of wild-type GBA1. Here, we report that the lysosomal membrane integrity is altered in GD fibroblasts, but lysosomal distribution and proteolytic activity is not significantly altered.Key words glucosylceramide, lysosome, Gaucher disease, lysosomotropic agent.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Gaucher
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article