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

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.

Authors and Affiliations

1. Department of Clinical Genetics, Erasmus Medical Center, 1738, DR Rotterdam, The Netherlands

   V. Bonifati, P. Rizzu, B. Oostra & P. Heutink

2. Dipartimento di Scienze Neurologiche, Università “La Sapienza”, Rome, Italy

   V. Bonifati & G. Meco

3. Neurogenetics Unit, IRCCS Neuromed, Pozzilli, Italy

   F. Squitieri

4. Center for Molecular and Biomolecular Informatics, University Medical Center Nijmegen, The Netherlands

   E. Krieger

5. Department of Epidemiology and Biostatistics, National Institute of Health, Rome, Italy

   N. Vanacore

6. Department of Neurology, Erasmus Medical Center Rotterdam, The Netherlands

   J. C. van Swieten

7. INSERM U 289, Hôpital de la Salpêtrière, Paris, France

   A. Brice

8. Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, The Netherlands

   C. M. van Duijn

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