Mitochondrial respiratory complex I defects in Fanconi anemia.
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.
Hematology Unit, Istituto Giannina Gaslini, 16148 Genova, Italy.
Enrico
E
Cappelli
Silvia
S
Ravera
Daniele
D
Vaccaro
Paola
P
Cuccarolo
Martina
M
Bartolucci
Isabella
I
Panfoli
Carlo
C
Dufour
Paolo
P
Degan
D000741:Anemia, Aplastic; D017209:Apoptosis / Q000235:genetics; D001855:Bone Marrow Diseases; D000080983:Bone Marrow Failure Disorders; D063646:Carcinogenesis / Q000235:genetics; D002648:Child; D004260:DNA Repair / Q000235:genetics; D042967:Electron Transport Complex I / Q000235:genetics* / Q000378:metabolism; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000473:pathology*; D009369:Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology
D042967:Electron Transport Complex I
Fanconi anemia; apoptosis; carcinogenesis; mitochondria; redox balance; respiration