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.
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Acknowledgements
We are grateful to the colleagues of the mitochondrial enzyme diagnostics of the Laboratory for Pediatrics and Neurology for excellent technical assistance.
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Supported by a grant of the Cystinosis Research Network.
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Wilmer, M., van den Heuvel, L., Rodenburg, R. et al. Mitochondrial Complex V Expression and Activity in Cystinotic Fibroblasts. Pediatr Res 64, 495–497 (2008). https://doi.org/10.1203/PDR.0b013e318183fd67
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DOI: https://doi.org/10.1203/PDR.0b013e318183fd67
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