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Lysosomal Storage Diseases: Is Impaired Apoptosis a Pathogenic Mechanism?

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Abstract

Lysosomal storage disorders are inborn diseases resulting from the lack or deficient 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.

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Authors and Affiliations

  1. Laboratoire de Biochimie, CHU, INSERM U.466, Rangueil, Toulouse, France

    Claudine Tardy, Nathalie Andrieu-Abadie, Robert Salvayre & Thierry Levade

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  1. Claudine Tardy
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  2. Nathalie Andrieu-Abadie
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  3. Robert Salvayre
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  4. Thierry Levade
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Correspondence to Thierry Levade.

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Tardy, C., Andrieu-Abadie, N., Salvayre, R. et al. Lysosomal Storage Diseases: Is Impaired Apoptosis a Pathogenic Mechanism?. Neurochem Res 29, 871–880 (2004). https://doi.org/10.1023/B:NERE.0000021232.05175.38

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