Neurological Sciences

, Volume 24, Issue 3, pp 159–160

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

  • V. Bonifati
  • P. Rizzu
  • F. Squitieri
  • E. Krieger
  • N. Vanacore
  • J. C. van Swieten
  • A. Brice
  • C. M. van Duijn
  • B. Oostra
  • G. Meco
  • P. Heutink
ORIGINAL

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.

Copyright information

© Springer-Verlag Italia 2003

Authors and Affiliations

  • V. Bonifati
    • 1
    • 2
  • P. Rizzu
    • 1
  • F. Squitieri
    • 3
  • E. Krieger
    • 4
  • N. Vanacore
    • 5
  • J. C. van Swieten
    • 6
  • A. Brice
    • 7
  • C. M. van Duijn
    • 8
  • B. Oostra
    • 1
  • G. Meco
    • 2
  • P. Heutink
    • 1
  1. 1.Department of Clinical GeneticsErasmus Medical CenterDR RotterdamThe Netherlands
  2. 2.Dipartimento di Scienze NeurologicheUniversità “La Sapienza”RomeItaly
  3. 3.Neurogenetics UnitIRCCS NeuromedPozzilliItaly
  4. 4.Center for Molecular and Biomolecular InformaticsUniversity Medical Center NijmegenThe Netherlands
  5. 5.Department of Epidemiology and BiostatisticsNational Institute of HealthRomeItaly
  6. 6.Department of NeurologyErasmus Medical Center RotterdamThe Netherlands
  7. 7.INSERM U 289Hôpital de la SalpêtrièreParisFrance
  8. 8.Department of Epidemiology and BiostatisticsErasmus Medical Center RotterdamThe Netherlands

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