title: Importance of mitochondrial transmembrane processes in human mitochondriopathies.
abstract: In a substantial group of subjects suspected to have a mitochondriopathy no defect in the mitochondrial energy metabolism (pyruvate dehydrogenase complex or respiratory chain complexes) can be demonstrated. At least in some of these subjects it seems justified to consider a defect in one of the proteins which mediate the transport of several ions and substrates across the mitochondrial membranes. Of particular interest are proteins which are directly involved in the process of oxidative phosphorylation, such as the adenine nucleotide translocator (ANT) and the phosphate carrier (PiC). However, defects in transmembrane ion transporters also may induce impaired energy metabolism probably as a result of osmotic disturbances within the mitochondrial matrix. In this respect, the voltage-dependent anion channel (VDAC) and other ion channels have to be taken into consideration. Here we review the still incomplete knowledge of the occurrence of ANT, PiC, VDAC, cation channels, and a few substrate carriers in human tissues, as well as their possible role in pathology.
authors.affiliation: Department of Pediatrics, University Hospital, Nijmegen, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Huizing
authors.forename: V
authors.initials: V
authors.lastname: DePinto
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: F J
authors.initials: FJ
authors.lastname: Trijbels
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: U
authors.initials: U
authors.lastname: Wendel
mesh_terms: D002352:Carrier Proteins / Q000378:metabolism; D004734:Energy Metabolism; D006801:Humans; D007425:Intracellular Membranes / Q000378:metabolism; D007473:Ion Channels / Q000378:metabolism; D017136:Ion Transport; D008565:Membrane Proteins / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism*; D000226:Mitochondrial ADP, ATP Translocases / Q000378:metabolism; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism*; D028044:Phosphate-Binding Proteins; D010710:Phosphates / Q000378:metabolism; D018272:Porins; D050994:Voltage-Dependent Anion Channels
chemical_list: D002352:Carrier Proteins; D007473:Ion Channels; D008565:Membrane Proteins; D028044:Phosphate-Binding Proteins; D010710:Phosphates; D018272:Porins; D050994:Voltage-Dependent Anion Channels; D000226:Mitochondrial ADP, ATP Translocases