Genetic and genomic studies of Drosophila parkin mutants implicate oxidative stress and innate immune responses in pathogenesis

Hum Mol Genet. 2005 Mar 15;14(6):799-811. doi: 10.1093/hmg/ddi074. Epub 2005 Feb 2.

Abstract

Loss-of-function mutations of the parkin gene, which encodes a ubiquitin-protein ligase, are a common cause of autosomal recessive juvenile parkinsonism (ARJP). Previous work has led to the identification of a number of Parkin substrates that implicate specific pathways in ARJP pathogenesis, including endoplasmic reticulum (ER) stress and cell cycle activation. To test the involvement of previously implicated pathways, as well as to identify novel pathways in ARJP pathogenesis, we are using genetic and genomic approaches to study Parkin function in the fruit fly Drosophila melanogaster. In previous work, we demonstrated that Drosophila parkin null mutants exhibit mitochondrial pathology and flight muscle degeneration. To further explore the mechanisms responsible for pathology in parkin mutants, we analyzed the transcriptional alterations that occur during muscle degeneration and performed a genetic screen for parkin modifiers. Results of these studies indicate that oxidative stress response components are induced in parkin mutants and that loss-of-function mutations in oxidative stress components enhance the parkin mutant phenotypes. Genes involved in the innate immune response are also induced in parkin mutants. In contrast, our studies did not reveal evidence for cell cycle or ER stress pathway induction in parkin mutants. These results suggest that oxidative stress and/or inflammation may play a fundamental role in the etiology of ARJP.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Drosophila melanogaster
  • Humans
  • Immunity, Innate* / genetics
  • Mutation*
  • Oxidative Stress* / genetics
  • Parkinsonian Disorders / genetics
  • Parkinsonian Disorders / metabolism
  • Parkinsonian Disorders / pathology
  • Ubiquitin-Protein Ligases / genetics
  • Ubiquitin-Protein Ligases / metabolism*

Substances

  • Ubiquitin-Protein Ligases
  • parkin protein