title: Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).
abstract: Ultrastructural and histochemical studies of bioptic and postmortem tissue samples from ten Fabry hemizygotes showed lysosomal storage in adipocytes as a constant feature of the classic phenotype of α-galactosidase (GLA) deficiency. The storage was represented by a crescent-shaped line of storage lysosomes of varying thicknesses restricted to the perinuclear subplasmalemmal area. The ultrastructure of the storage lysosomes was dominated by concentric lipid membranes modified by simultaneous deposition of autofluorescent ceroid. Storage was widely expressed in adipose tissue. The number of storage lysosomes was increased, and the lysosomes were more clustered in adipocytes with less voluminous lipid content. The findings should attract interest to studies of adipose tissue biology in Fabry disease, a topic that has not been studied so far. In terms of cell biology, the observations represent indirect evidence of significant lysosomal turnover of α-galactose lipid conjugates in adipocytes demasked by GLA deficiency. The results extend the thus far limited information on the adipocyte lysosomal system and its participation in lysosomal storage disorders.
authors.affiliation: Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine and Teaching Hospital, Prague, Czech Republic. hhulk@lf1.cuni.cz
authors.forename: Helena
authors.initials: H
authors.lastname: Hůlková
authors.forename: Milan
authors.initials: M
authors.lastname: Elleder
mesh_terms: D017667:Adipocytes / Q000201:enzymology* / Q000648:ultrastructure; D001344:Autopsy; D001706:Biopsy; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006003:Glycogen / Q000378:metabolism*; D057898:Hemizygote; D006801:Humans; D008247:Lysosomes / Q000201:enzymology / Q000648:ultrastructure; D008297:Male; D009154:Mutation; D010641:Phenotype; D000519:alpha-Galactosidase / Q000235:genetics / Q000378:metabolism*
chemical_list: D006003:Glycogen; D000519:alpha-Galactosidase