Report

Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

Science  10 Jan 2003:
Vol. 299, Issue 5604, pp. 256-259
DOI: 10.1126/science.1077209

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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.

  • * To whom correspondence should be addressed. E-mail: bonifati{at}kgen.fgg.eur.nl or heutink{at}kgen.fgg.eur.nl

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