Mutations in the <i>DJ-1</i> Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

TLDR

The DJ‑1 gene encodes a ubiquitous, highly conserved protein whose function is largely unknown but is implicated in the oxidative stress response. The study aims to link DJ‑1 mutations to PARK7 parkinsonism and to elucidate DJ‑1’s role in neuronal maintenance and Parkinson’s disease pathogenesis. Loss of DJ‑1 function causes neurodegeneration.

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.