Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes

PLoS Genet. 2010 Jul 1;6(7):e1001008. doi: 10.1371/journal.pgen.1001008.

Abstract

LYST is a large cytosolic protein that influences the biogenesis of lysosome-related organelles, and mutation of the encoding gene, LYST, can cause Chediak-Higashi syndrome. Recently, Lyst-mutant mice were recognized to also exhibit an iris disease resembling exfoliation syndrome, a common cause of glaucoma in humans. Here, Lyst-mutant iris phenotypes were used in a search for genes that influence Lyst pathways. In a candidate gene-driven approach, albino Lyst-mutant mice homozygous for a mutation in Tyr, whose product is key to melanin synthesis within melanosomes, exhibited complete rescue of Lyst-mutant iris phenotypes. In a genetic background-driven approach using a DBA/2J strain of congenic mice, an interval containing Tyrp1 enhanced Lyst-dependent iris phenotypes. Thus, both experimental approaches implicated the melanosome, an organelle that is a potential source of oxidative stress, as contributing to the disease phenotype. Confirming an association with oxidative damage, Lyst mutation resulted in genetic context-sensitive changes in iris lipid hydroperoxide levels, being lowest in albino and highest in DBA/2J mice. Surprisingly, the DBA/2J genetic background also exposed a late-onset neurodegenerative phenotype involving cerebellar Purkinje-cell degeneration. These results identify an association between oxidative damage to lipid membranes and the severity of Lyst-mutant phenotypes, revealing a new mechanism that contributes to pathophysiology involving LYST.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cell Membrane / metabolism*
  • Disease Models, Animal
  • Exfoliation Syndrome / genetics*
  • Exfoliation Syndrome / metabolism
  • Exfoliation Syndrome / pathology
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Iris / metabolism
  • Iris / pathology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred DBA
  • Mutation*
  • Oxidative Stress*
  • Phenotype
  • Proteins / genetics*
  • Proteins / metabolism
  • Vesicular Transport Proteins

Substances

  • Intracellular Signaling Peptides and Proteins
  • Lyst protein, mouse
  • Proteins
  • Vesicular Transport Proteins