Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with menkes syndrome
- 12 December 1988
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 12 (4) , 386-389
- https://doi.org/10.1007/bf01802032
Abstract
The mitochondrial copper concentrations and cytochrome C oxidase activity of the fibroblasts from the patients with Menkes syndrome were investigated. Both the mitochondrial copper concentrations and cytochrome C oxidase activity of fibroblasts from patients with Menkes syndrome were lower than those of the control fibroblasts. These data indicate that the mitochondria of fibroblasts from patients with Menkes syndrome are in a state of copper deficiency. The activity decline of cytochrome C oxidase, a mitochondrial cuproenzyme, seems to be caused by copper deficiency in the mitochondria.Keywords
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