title: Respiratory chain defects: what do we know for sure about their consequences in vivo?
abstract: The function and the structure of mitochondria have been the subject of intensive research since the discovery of these organelles. Yet, the investigation of patients with mitochondrial disease reveals that we do not understand a large part of the underlying pathogenic processes. This has disastrous consequences in terms of the therapy possibly proposed to the patients and their family. An attempt is made in this short review to question our present ideas on the potential consequences of mitochondrial dysfunctions and to enlighten new observations which might be valuable in the understanding of the physiopathology of these diseases.
authors.affiliation: INSERM U393, Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, F-75015, Paris, France.
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Brière
authors.forename: Dominique
authors.initials: D
authors.lastname: Chrétien
authors.forename: Paule
authors.initials: P
authors.lastname: Bénit
authors.forename: Pierre
authors.initials: P
authors.lastname: Rustin
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D019069:Cell Respiration / Q000502:physiology; D006801:Humans; D008928:Mitochondria / Q000378:metabolism*; D028361:Mitochondrial Diseases / Q000378:metabolism*; D015398:Signal Transduction; D019802:Succinic Acid / Q000378:metabolism; D013481:Superoxides / Q000378:metabolism
chemical_list: D013481:Superoxides; D000255:Adenosine Triphosphate; D019802:Succinic Acid