title: The mitochondrial ADP/ATP carrier (SLC25 family): pathological implications of its dysfunction.
abstract: In aerobic eukaryotic cells, the high energy metabolite ATP is generated mainly within the mitochondria following the process of oxidative phosphorylation. The mitochondrial ATP is exported to the cytoplasm using a specialized transport protein, the ADP/ATP carrier, to provide energy to the cell. Any deficiency or dysfunction of this membrane protein leads to serious consequences on cell metabolism and can cause various diseases such as muscular dystrophy. Described as a decisive player in the programmed cell death, it was recently shown to play a role in cancer. The objective of this review is to summarize the current knowledge of the involvement of the ADP/ATP carrier, encoded by the SLC25A4, SLC25A5, SLC25A6 and SLC25A31 genes, in human diseases and of the efforts made at designing different model systems to study this carrier and the associated pathologies through biochemical, genetic, and structural approaches.
authors.affiliation: Institute of Biochemistry and Molecular Medicine, NCCR TransCure, University of Bern, Bern, Switzerland. benjamin.clemencon@ibmm.unibe.ch
authors.forename: Benjamin
authors.initials: B
authors.lastname: Clémençon
authors.forename: Marion
authors.initials: M
authors.lastname: Babot
authors.forename: Véronique
authors.initials: V
authors.lastname: Trézéguet
mesh_terms: D033741:Adenine Nucleotide Translocator 1 / Q000378:metabolism; D033742:Adenine Nucleotide Translocator 2 / Q000378:metabolism; D033781:Adenine Nucleotide Translocator 3 / Q000378:metabolism; D000595:Amino Acid Sequence; D017209:Apoptosis / Q000235:genetics / Q000502:physiology*; D006801:Humans; D053858:Metabolic Networks and Pathways / Q000235:genetics / Q000502:physiology*; D000226:Mitochondrial ADP, ATP Translocases / Q000235:genetics* / Q000378:metabolism / Q000502:physiology*; D008954:Models, Biological; D008958:Models, Molecular; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics / Q000503:physiopathology*; D011487:Protein Conformation; D016415:Sequence Alignment
chemical_list: D033741:Adenine Nucleotide Translocator 1; D033742:Adenine Nucleotide Translocator 2; D033781:Adenine Nucleotide Translocator 3; C518774:SLC25A31 protein, human; C580832:SLC25A4 protein, human; D000226:Mitochondrial ADP, ATP Translocases