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
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DOI：
10.1126/science.1077209
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发表时间：
2003-01-10
期刊：
影响因子：
56.9
通讯作者：
Heutink, P
中科院分区：
文献类型：
--
作者：
Bonifati, V;Rizzu, P;Heutink, P
DJ-1基因编码一种普遍存在的高度保守的蛋白质。在这里，我们证明了DJ-1突变与Park7相关，Park7是人类帕金森病的一种单基因形式。DJ-1蛋白的功能尚不清楚，但有证据表明它参与了氧化应激反应。我们的发现表明，DJ-1功能的丧失会导致神经变性。阐明DJ-1蛋白的生理作用有助于理解大脑神经元的维持机制和帕金森病的发病机制。
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.