Loss of function of DJ-1 triggered by Parkinson's disease-associated mutation is due to proteolytic resistance to caspase-6

Cell Death Differ. 2010 Jan;17(1):158-69. doi: 10.1038/cdd.2009.116.

Abstract

DJ-1 was recently identified as a gene product responsible for a subset of familial Parkinson's disease (PD). The mechanisms by which mutations in DJ-1 alter its function and account for PD-related pathology remained largely unknown. We show that DJ-1 is processed by caspase-6 and that the caspase-6-derived C-terminal fragment of DJ-1 fully accounts for associated p53-dependent cell death. In line with the above data, we show that a recently described early-onset PD-associated mutation (D149A) renders DJ-1 resistant to caspase-6 proteolysis and abolishes its protective phenotype. Unlike the D149A mutation, the L166P mutation that prevents DJ-1 dimerization does not impair its proteolysis by caspase-6 although it also abolishes DJ-1 antiapoptotic function. Therefore, we show here that DJ-1 loss of function could be due to impaired caspase-6 proteolysis and we document the fact that various DJ-1 mutations could lead to PD pathology through distinct molecular mechanisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Apoptosis
  • Brain / metabolism
  • Caspase 6 / metabolism*
  • Cells, Cultured
  • Dimerization
  • Down-Regulation
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Mice
  • Mutagenesis, Site-Directed
  • Mutation*
  • Oncogene Proteins / genetics*
  • Oncogene Proteins / metabolism
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Protein Deglycase DJ-1
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • Tumor Suppressor Protein p53
  • PARK7 protein, human
  • Protein Deglycase DJ-1
  • Caspase 6