Mutations in the DJ-1 Gene Associated With Autosomal Recessive Early-Onset Parkinsonism

Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21.

Abstract

The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Animals
  • Base Sequence
  • Brain / metabolism
  • COS Cells
  • Cell Nucleus / metabolism
  • Chromosomes, Human, Pair 1
  • Cloning, Molecular
  • Cytoplasm / metabolism
  • DNA, Complementary
  • Exons
  • Genes, Recessive
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Molecular Sequence Data
  • Mutation*
  • Oncogene Proteins / chemistry
  • Oncogene Proteins / genetics*
  • Oncogene Proteins / metabolism
  • Oxidative Stress
  • PC12 Cells
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / metabolism
  • Pedigree
  • Physical Chromosome Mapping
  • Point Mutation
  • Protein Deglycase DJ-1
  • Protein Structure, Secondary
  • Rats
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Deletion
  • Transfection

Substances

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