Wilmer Martijn J, van den Heuvel Lambertus P, Rodenburg Richard J, Vogel Rutger O, Nijtmans Leo G, Monnens Leo A, Levtchenko Elena N
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, 6500 HB, The Netherlands.
Pediatr Res. 2008 Nov;64(5):495-7. doi: 10.1203/PDR.0b013e318183fd67.
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.
ATP代谢的改变被认为与胱氨酸病（遗传性范科尼综合征最常见的形式）的发病机制有关。最近一项研究表明，胱氨酸病成纤维细胞中呼吸链复合体I-IV的活性正常，但ATP水平降低。在此，我们显示胱氨酸病成纤维细胞线粒体中复合体V的表达和活性正常。这表明线粒体氧化磷酸化酶的改变并非胱氨酸病成纤维细胞中ATP减少的原因。
