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Trends Mol Med. 2013 Sep;19(9):513-4. doi: 10.1016/j.molmed.2013.07.008. Epub 2013 Aug 6.

Mitochondrial respiratory complex I defects in Fanconi anemia.

Author information

1
Hematology Unit, Istituto Giannina Gaslini, 16148 Genova, Italy.

Abstract

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.

KEYWORDS:

Fanconi anemia; apoptosis; carcinogenesis; mitochondria; redox balance; respiration

PMID:
23932594
DOI:
10.1016/j.molmed.2013.07.008
[Indexed for MEDLINE]
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