title: Mitochondrial complex V expression and activity in cystinotic fibroblasts.
abstract: Alterations in ATP metabolism have been proposed to be involved in the pathogenesis of cystinosis, the most common form of inherited Fanconi syndrome. A recent study showed normal activity of respiratory chain complexes I-IV with decreased ATP levels in cystinotic fibroblasts. Here, we show normal complex V expression and activity in mitochondria of cystinotic fibroblasts. This indicates that alterations in mitochondrial oxidative phosphorylation enzymes are not responsible for ATP decrease in cystinotic fibroblasts.
authors.affiliation: Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, 6500 HB, The Netherlands. m.wilmer@cukz.umcn.nl
authors.forename: Martijn J
authors.initials: MJ
authors.lastname: Wilmer
authors.forename: Lambertus P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Rodenburg
authors.forename: Rutger O
authors.initials: RO
authors.lastname: Vogel
authors.forename: Leo G
authors.initials: LG
authors.lastname: Nijtmans
authors.forename: Leo A
authors.initials: LA
authors.lastname: Monnens
authors.forename: Elena N
authors.initials: EN
authors.lastname: Levtchenko
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D015153:Blotting, Western; D016022:Case-Control Studies; D002478:Cells, Cultured; D003554:Cystinosis / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D008928:Mitochondria / Q000201:enzymology*; D025261:Mitochondrial Proton-Translocating ATPases / Q000378:metabolism*; D010085:Oxidative Phosphorylation
chemical_list: C021983:complex V (mitochondrial oxidative phosphorylation system); D000255:Adenosine Triphosphate; D025261:Mitochondrial Proton-Translocating ATPases