Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Bonifati V., Rizzu P., van Baren MJ., Schaap O., Breedveld GJ., Krieger E., Dekker MCJ., Squitieri F., Ibanez P., Joosse M., van Dongen JW., Vanacore N., van Swieten JC., Brice A., Meco G., van Duijn CM., Oostra BA., Heutink P.
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.