Mitochondrial respiratory complex I defects in Fanconi anemia

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

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.

Publication types

  • Review

MeSH terms

  • Anemia, Aplastic
  • Apoptosis / genetics
  • Bone Marrow Diseases
  • Bone Marrow Failure Disorders
  • Carcinogenesis / genetics
  • Child
  • DNA Repair / genetics
  • Electron Transport Complex I / genetics*
  • Electron Transport Complex I / metabolism
  • Fanconi Anemia / complications
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / pathology
  • Hemoglobinuria, Paroxysmal / complications
  • Hemoglobinuria, Paroxysmal / genetics
  • Hemoglobinuria, Paroxysmal / pathology
  • Humans
  • Mitochondria / genetics
  • Mitochondria / pathology*
  • Neoplasms / complications
  • Neoplasms / genetics*
  • Neoplasms / pathology

Substances

  • Electron Transport Complex I

Supplementary concepts

  • Bone Marrow failure syndromes