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

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

Science (New York, N.Y.) (2002-11-26)

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

PMID12446870

摘要

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.