Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
basic_science · Level V
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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.
Medical subject headings
- Mutation
- Oncogene Proteins
- Parkinsonian Disorders