DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7

被引：38

作者：

Di Nottia, M. ^{[1
]}

Masciullo, M. ^{[2
]}

Verrigni, D. ^{[1
]}

Petrillo, S. ^{[1
]}

Modoni, A. ^{[3
]}

Rizzo, V. ^{[4
]}

Di Giuda, D. ^{[4
]}

Rizza, T. ^{[1
]}

Niceta, M. ^{[5
]}

Torraco, A. ^{[1
]}

Bianchi, M. ^{[1
]}

Santoro, M. ^{[6
]}

Bentivoglio, A. R. ^{[3
]}

Bertini, E. ^{[1
]}

Piemonte, F. ^{[1
]}

Carrozzo, R. ^{[1
]}

Silvestri, G. ^{[3
]}

机构：

[1] Bambino Gesu Pediat Hosp, Unit Muscular & Neurodegenerat Disorders, Mol Med Lab, IRCCS, Viale San Paolo 15, I-00146 Rome, Italy

[2] IRCCS Fdn Santa Lucia, SPInal REhabil Lab, Rome, Italy

[3] Univ Cattolica Sacro Cuore, Fdn Policlin A Gemelli Rome, Inst Neurol, Rome, Italy

[4] Univ Cattolica Sacro Cuore, Fondazione Policlinico Gemelli Rome, Dept Nucl Med, Rome, Italy

[5] Bambino Gesu Pediat Hosp, Div Genet Disorders & Rare Dis, IRCCS, Rome, Italy

[6] Fdn Don Carlo Gnocchi Onlus, Dept Neurosci, Milan, Italy

来源：

CLINICAL GENETICS | 2017年 / 92卷 / 01期

关键词：

DJ-1; early-onset parkinsonism; mitochondrial complex I; mitochondrial disease; oxidative stress; COMPLEX I DEFICIENCY; PARKINSONS-DISEASE; OXIDIZED GLUTATHIONE; BRAIN MITOCHONDRIA; ATP SYNTHESIS; PROTEIN DJ-1; GENES; LOCALIZATION; MUTATIONS; MITOPHAGY;

D O I：

10.1111/cge.12841

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

DJ-1 mutations are associated to early-onset Parkinson's disease and accounts for about 1-2% of the genetic forms. The protein is involved in many biological processes and its role in mitochondrial regulation is gaining great interest, even if its function in mitochondria is still unclear. We describe a 47-year-old woman affected by a multisystem disorder characterized by progressive, early-onset parkinsonism plus distal spinal amyotrophy, cataracts and sensory-neural deafness associated with a novel homozygous c.461C>A [p.T154K] mutation in DJ-1. Patient's cultured fibroblasts showed low ATP synthesis, high ROS levels and reduced amount of some subunits of mitochondrial complex I; biomarkers of oxidative stress also resulted abnormal in patient's blood. The clinical pattern of multisystem involvement and the biochemical findings in our patient highlight the role for DJ-1 in modulating mitochondrial response against oxidative stress.

引用

页码：18 / 25

页数：8

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