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

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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 link-age 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.

Original languageEnglish
Pages (from-to)159-160
Number of pages2
JournalNeurological Sciences
Volume24
Issue number3
DOIs
Publication statusPublished - Oct 2003

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ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Bonifati, V., Rizzu, P., Squitieri, F., Krieger, E., Vanacore, N., van Swieten, J. C., Brice, A., van Duijn, C. M., Oostra, B., Meco, G., & Heutink, P. (2003). DJ-1 (PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurological Sciences, 24(3), 159-160. https://doi.org/10.1007/s10072-003-0108-0