Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism-Reference-Cited by-同舟云学术

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

Published:2003-01-10 Issue:5604 Volume:299 Page:256-259
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Bonifati Vincenzo¹²,Rizzu Patrizia¹,van Baren Marijke J.¹,Schaap Onno¹,Breedveld Guido J.¹,Krieger Elmar³,Dekker Marieke C. J.¹,Squitieri Ferdinando⁴,Ibanez Pablo⁵,Joosse Marijke¹,van Dongen Jeroen W.¹,Vanacore Nicola²⁶,van Swieten John C.⁷,Brice Alexis⁵,Meco Giuseppe²,van Duijn Cornelia M.¹,Oostra Ben A.¹,Heutink Peter¹

Affiliation:

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

2. Department of Neurological Sciences, “La Sapienza” University, Viale dell'Università30, 00185 Rome, Italy.

3. Centre for Molecular and Biomolecular Informatics, University Medical Center Nijmegen, Geert Grooteplein Zuid 30, 6525 GA Nijmegen, Netherlands.

4. Neurogenetics Unit, IRCCS INM Neuromed, Località Camerelle, 86077 Pozzilli, Italy.

5. INSERM U 289, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.

6. Laboratory of Epidemiology and Biostatistics, National Institute for Health, 00161 Roma, Italy.

7. Department of Neurology, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, Netherlands.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference23 articles.

1. Parkinson's Disease

2. Recent advances in the genetics and pathogenesis of Parkinson disease

3. PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36

4. Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

5. www.ncbi.nlm.nih.gov

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