Mitochondrial complex V expression and activity in cystinotic fibroblasts.
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.
Wilmer
Martijn J
MJ
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, 6500 HB, The Netherlands. m.wilmer@cukz.umcn.nl
van den Heuvel
Lambertus P
LP
Rodenburg
Richard J
RJ
Vogel
Rutger O
RO
Nijtmans
Leo G
LG
Monnens
Leo A
LA
Levtchenko
Elena N
EN
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
C021983:complex V (mitochondrial oxidative phosphorylation system); D000255:Adenosine Triphosphate; D025261:Mitochondrial Proton-Translocating ATPases