What have PINK1 and HtrA2 genes told us about the role of mitochondria in Parkinson's disease?

Ann N Y Acad Sci. 2008 Dec:1147:30-6. doi: 10.1196/annals.1427.032.

Abstract

Parkinson's disease (PD) is a common, disabling, neurodegenerative disease. Our knowledge of the molecular events leading to PD is being greatly enhanced by the study of relatively rare familial form of the disease. Nevertheless, the pathways leading from the genetic mutations to nigral cell degeneration and the other features in PD remain poorly understood. The identification of PINK1, a mitochondrial putative protein kinase, has helped understand the pathophysiology of mitochondria and their potential role in PD. Mutations in PINK1 are associated with the PARK6 autosomal recessive, early-onset, PD-susceptibility locus. Point mutations in another mitochondrial protein, HtrA2, are a susceptibility factor for PD (PARK13 locus). We report here the results of investigations into the interactors and pathways of these two mitochondrial molecules (PINK1 and HtrA2) in a range of models and human PD tissue.

MeSH terms

  • High-Temperature Requirement A Serine Peptidase 2
  • Humans
  • Mitochondria / physiology*
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / metabolism
  • Mutation
  • Parkinson Disease / genetics
  • Parkinson Disease / physiopathology*
  • Phosphorylation
  • Protein Kinases / genetics*
  • Protein Kinases / metabolism
  • Serine Endopeptidases / genetics*
  • Serine Endopeptidases / metabolism

Substances

  • Mitochondrial Proteins
  • Protein Kinases
  • PTEN-induced putative kinase
  • Serine Endopeptidases
  • HTRA2 protein, human
  • High-Temperature Requirement A Serine Peptidase 2