title: Lysosomal storage diseases: is impaired apoptosis a pathogenic mechanism?
abstract: Lysosomal storage disorders are inborn diseases resulting from the lack or activity of lysosomal hydrolases, transporters, or integral membrane proteins. Although most of the genes encoding these proteins have been characterized and many gene defects identified, the molecular bases underlying the pathophysiology of these genetic diseases still remain obscure. In this mini-review, the potential role of apoptotic cell death in the development of the cellular and tissue lesions seen in lysosomal storage disorders, and particularly in neurological diseases, is discussed. A list of observations documenting either a decrease or an exacerbation in apoptosis induction are presented. The putative, yet controversial contribution of certain sphingolipids and cathepsins in the regulation of these phenomena is emphasized.
authors.affiliation: INSERM U.466, Laboratoire de Biochimie, CHU Rangueil, Toulouse, France.
authors.forename: Claudine
authors.initials: C
authors.lastname: Tardy
authors.forename: Nathalie
authors.initials: N
authors.lastname: Andrieu-Abadie
authors.forename: Robert
authors.initials: R
authors.lastname: Salvayre
authors.forename: Thierry
authors.initials: T
authors.lastname: Levade
mesh_terms: D017209:Apoptosis / Q000502:physiology; D010450:Endopeptidases / Q000378:metabolism; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000473:pathology*; D008247:Lysosomes / Q000201:enzymology; D013107:Sphingolipids / Q000502:physiology
chemical_list: D013107:Sphingolipids; D010450:Endopeptidases