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Lysosomal storage diseases: is impaired apoptosis a pathogenic mechanism?

Claudine Tardy1, Nathalie Andrieu-Abadie, Robert Salvayre

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

Neurochemical Research
|May 14, 2004
PubMed

Insights

Lysosomal storage disorders involve genetic defects affecting cell function. This review explores how programmed cell death (apoptosis) contributes to disease development, especially in neurological conditions.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Lysosomal storage disorders (LSDs) stem from genetic defects in lysosomal enzymes or proteins.
  • Despite gene identification, the precise molecular mechanisms driving LSD pathophysiology remain unclear.
  • Cellular and tissue damage in LSDs, particularly neurological ones, requires further investigation.

Purpose of the Study:

  • To review the potential role of apoptotic cell death in LSD pathogenesis.
  • To examine the link between apoptosis and cellular/tissue lesions in LSDs, with a focus on neurological manifestations.
  • To discuss the controversial involvement of sphingolipids and cathepsins in regulating apoptosis in LSDs.

Main Methods:

  • Literature review and synthesis of existing research.
  • Analysis of observations on altered apoptosis induction in LSDs.
  • Discussion of molecular regulators of apoptosis, including sphingolipids and cathepsins.

Main Results:

  • Evidence suggests a complex, often contradictory, role for apoptosis in LSD development.
  • Apoptosis can be either decreased or exacerbated in various LSD contexts.
  • Sphingolipids and cathepsins are implicated, though controversially, in modulating apoptotic pathways in LSDs.

Conclusions:

  • Apoptotic cell death is a significant factor in the pathophysiology of lysosomal storage disorders.
  • Understanding the regulation of apoptosis is crucial for elucidating LSD mechanisms, especially in the nervous system.
  • Further research is needed to clarify the precise roles of specific molecules like sphingolipids and cathepsins in LSD-associated apoptosis.

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