Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Vincenzo Bonifati, Patrizia Rizzu, Marijke J. Van Baren, Onno Schaap, Guido J. Breedveld, Elmar Krieger, Marieke C J Dekker, Ferdinando Squitieri, Pablo Ibanez, Marijke Joosse, Jeroen W. Van Dongen, Nicola Vanacore, John C. Van Swieten, Alexis Brice, Giuseppe Meco, Cornelia M. Van Duijn, Ben A. Oostra, Peter Heutink

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)256-259
Number of pages4
JournalScience
Volume299
Issue number5604
DOIs
Publication statusPublished - Jan 10 2003

ASJC Scopus subject areas

  • General

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    Bonifati, V., Rizzu, P., Van Baren, M. J., Schaap, O., Breedveld, G. J., Krieger, E., Dekker, M. C. J., Squitieri, F., Ibanez, P., Joosse, M., Van Dongen, J. W., Vanacore, N., Van Swieten, J. C., Brice, A., Meco, G., Van Duijn, C. M., Oostra, B. A., & Heutink, P. (2003). Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 299(5604), 256-259. https://doi.org/10.1126/science.1077209