与常染色体隐性早发性帕金森病相关的DJ-1基因突变。

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

作者信息

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

机构信息

Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.

出版信息

Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21.

DOI:10.1126/science.1077209

PMID:12446870

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.

摘要

DJ-1基因编码一种普遍存在、高度保守的蛋白质。在此，我们表明DJ-1突变与PARK7相关，PARK7是人类帕金森病的一种单基因形式。DJ-1蛋白的功能尚不清楚，但有证据表明它参与氧化应激反应。我们的研究结果表明，DJ-1功能丧失会导致神经退行性变。阐明DJ-1蛋白的生理作用可能有助于理解大脑神经元维持机制和帕金森病的发病机制。