The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity

Curr Protein Pept Sci. 2017;18(7):702-714. doi: 10.2174/1389203717666160311121954.

Abstract

Early onset Parkinson's disease can be caused by variants in the PINK1, Parkin, and DJ-1 genes. Since their initial discoveries, hundreds of variants have been found in these genes that are associated with a Parkinsonian phenotype. This review will briefly discuss the functions of the protein products of the three genes, then focus on the effects that disease associated variants have on these functions. We will also discuss how experimental findings can help decide whether individual variants are pathogenic or not.

Keywords: DJ-1; PINK1; Variants; parkin; pathogenicity; phenotype.

Publication types

  • Review

MeSH terms

  • Animals
  • Drosophila melanogaster / genetics
  • Drosophila melanogaster / metabolism
  • Gene Expression
  • Genes, Recessive
  • Humans
  • Models, Molecular
  • Mutation*
  • Neurons / metabolism
  • Neurons / pathology
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Parkinson Disease / pathology
  • Phenotype
  • Protein Deglycase DJ-1 / chemistry
  • Protein Deglycase DJ-1 / genetics*
  • Protein Deglycase DJ-1 / metabolism
  • Protein Kinases / chemistry
  • Protein Kinases / genetics*
  • Protein Kinases / metabolism
  • Protein Structure, Secondary
  • Ubiquitin-Protein Ligases / chemistry
  • Ubiquitin-Protein Ligases / genetics*
  • Ubiquitin-Protein Ligases / metabolism

Substances

  • Ubiquitin-Protein Ligases
  • parkin protein
  • Protein Kinases
  • PTEN-induced putative kinase
  • PARK7 protein, human
  • Protein Deglycase DJ-1