DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

Neurol Sci. 2003 Oct;24(3):159-60. doi: 10.1007/s10072-003-0108-0.

Abstract

Four chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Italian family. By positional cloning within the refined PARK7 critical region we recently identified mutations in the DJ-1 gene in the two PARK7-linked families. The function of DJ-1 remains largely unknown, but evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role for DJ-1 as an antioxidant and/or a molecular chaperone. Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 1*
  • DNA Mutational Analysis
  • Family Health
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Mutation
  • Oncogene Proteins / genetics*
  • Parkinsonian Disorders / genetics*
  • Protein Deglycase DJ-1

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • PARK7 protein, human
  • Protein Deglycase DJ-1