title: Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.
abstract: Mitochondrial transmembrane carrier deficiencies are a recently discovered group of disorders, belonging to the so-called mitochondriocytopathies. We examined the human tissue distribution of carriers which are involved in the process of oxidative phosphorylation (adenine nucleotide translocator, phosphate carrier, and voltage-dependent anion channel) and some mitochondrial substrate carriers (2-oxoglutarate carrier, carnitine-acylcarnitine carrier, and citrate carrier). The tissue distribution on mRNA level of mitochondrial transport proteins appears to be roughly in correlation with the dependence of these tissues on mitochondrial energy production capacity. In general the main mRNA expression of carriers involved in mitochondrial energy metabolism occurs in skeletal muscle and heart. Expression in liver and pancreas differs between carriers. Expression in brain, placenta, lung, and kidney is lower than in the other tissues. Western and Northern blotting experiments show a comparable HVDAC1 protein and mRNA distribution for the tested tissues. Patient's studies showed that cultured skin fibroblasts may not be a reliable alternative for skeletal muscle in screening for human mitochondrial carrier defects.
authors.affiliation: Department of Pediatrics, University Hospital, Nijmegen, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Huizing
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: V
authors.initials: V
authors.lastname: Dolce
authors.forename: V
authors.initials: V
authors.lastname: Iacobazzi
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: F
authors.initials: F
authors.lastname: Palmieri
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
mesh_terms: D000227:Adenine Nucleotides / Q000378:metabolism; D002331:Carnitine / Q000378:metabolism; D002352:Carrier Proteins / Q000378:metabolism*; D019343:Citric Acid / Q000378:metabolism; D006801:Humans; D007656:Ketoglutaric Acids / Q000378:metabolism; D008565:Membrane Proteins / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism*; D010710:Phosphates / Q000378:metabolism; D018272:Porins; D050995:Voltage-Dependent Anion Channel 1; D050994:Voltage-Dependent Anion Channels
chemical_list: D000227:Adenine Nucleotides; D002352:Carrier Proteins; D007656:Ketoglutaric Acids; D008565:Membrane Proteins; D010710:Phosphates; D018272:Porins; C494762:VDAC1 protein, human; D050994:Voltage-Dependent Anion Channels; D019343:Citric Acid; D050995:Voltage-Dependent Anion Channel 1; D002331:Carnitine