Mutations in the <i>DJ-1</i> Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Vincenzo Bonifati(Erasmus MC), Patrizia Rizzu(Erasmus MC), Marijke J. van Baren(Erasmus MC), Onno Schaap(Erasmus MC), Guido J. Breedveld(Erasmus MC), Elmar Krieger(Radboud University Nijmegen), Marieke Dekker(Erasmus MC), Ferdinando Squitieri(Istituto Neurologico Mediterraneo), Pablo Ibáñez(Inserm), Marijke Joosse(Erasmus MC), Jeroen W. van Dongen(Erasmus MC), Nicola Vanacore(National Institute of Health), John C. van Swieten(Erasmus MC), Alexis Brice(Inserm), G. Meco(Sapienza University of Rome), Cornelia M. van Duijn(Erasmus MC), Ben A. Oostra(Erasmus MC), Peter Heutink(Erasmus MC)
Cited by 2,776
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.
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