Mitochondrial respiratory complex I defects in Fanconi anemia

被引：39

作者：

Cappelli, Enrico ^{[1
]}

Ravera, Silvia ^{[2
]}

Vaccaro, Daniele ^{[2
]}

Cuccarolo, Paola ^{[3
,4
]}

Bartolucci, Martina ^{[2
]}

Panfoli, Isabella ^{[2
]}

Dufour, Carlo ^{[1
]}

Degan, Paolo ^{[4
]}

机构：

[1] Ist Giannina Gaslini, Hematol Unit, I-16148 Genoa, Italy

[2] Univ Genoa, Dept Pharmacol, Biochem Lab, I-16132 Genoa, Italy

[3] Univ Genoa, DISTAV, Dipartimento Sci Terra Ambiente & Vita, I-16132 Genoa, Italy

[4] IST Ist Nazl Ric Cancro, IRCCS AOU San Martino, Mol Mutagenesis & DNA Repair UO, I-16123 Genoa, Italy

来源：

TRENDS IN MOLECULAR MEDICINE | 2013年 / 19卷 / 09期

关键词：

Fanconi anemia; mitochondria; respiration; apoptosis; redox balance; carcinogenesis; OXIDATIVE STRESS; CELLS;

D O I：

10.1016/j.molmed.2013.07.008

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Fanconi anemia (FA) is a rare, complex disorder that manifests in childhood. Children with FA suffer bone marrow failure, leukemias, or solid tumors. FA-associated mutations are found in 15 proteins that are involved in DNA repair. Some of these proteins have extranuclear activities involving redox balance, apoptosis, and energy metabolism; and recent data demonstrate respiratory impairment in FA cells, suggesting that altered mitochondrial function is a factor in this disease.

引用

页码：513 / 514

页数：2

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