Mitochondrial respiratory complex I defects in Fanconi anemia

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• 作者：Enrico Cappelli ; Silvia Ravera ; Daniele Vaccaro ; Paola Cuccarolo ; Martina Bartolucci ; Isabella Panfoli ; Carlo Dufour ; Paolo Degan
• 关键词：Fanconi anemia ; mitochondria ; respiration ; apoptosis ; redox balance ; carcinogenesis
• 刊名：Trends in Molecular Medicine
• 出版年：2013
• 出版时间：September, 2013
• 年：2013
• 卷：19
• 期：9
• 页码：513-514
• 全文大小：240 K

文摘

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.