منابع مشابه
Cytochrome C Oxidase Deficiency in Childhood
Mitochondria participate in a number of metabolic pathways, in the cell growth, aging process and cell death/ apoptosis but their principal biological function is energy production. More than 90% of ATP is produced by oxidative phosphorylation (OXPHOS) in the inner mitochondrial membrane. OXPHOS is composed of four multiprotein respiratory chain complexes, ATP synthase and two electron carriers...
متن کاملExpression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells
Cytochrome c oxidase (COX) deficiency is associated with a wide spectrum of clinical conditions, ranging from early onset devastating encephalomyopathy and cardiomyopathy, to neurological diseases in adulthood and in the elderly. No method of compensating successfully for COX deficiency has been reported so far. In vitro, COX-deficient human cells require additional glucose, pyruvate and uridin...
متن کاملAssembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?
Cytochrome c oxidase is an intricate metalloprotein that transfers electrons from cytochrome c to oxygen in the last step of the mitochondrial respiratory chain. It uses the free energy of this reaction to sustain a transmembrane electrochemical gradient of protons. Site-directed mutagenesis studies of bacterial terminal oxidases and the recent availability of refined crystal structures of the ...
متن کاملReversible mitochondrial myopathy with cytochrome c oxidase deficiency.
Two siblings, a boy and a girl born in a nonconsanguineous marriage, presented with a similar clinical course. Sucking and breathing difficulties appeared within a few weeks of birth. Clinical examination revealed profound muscular hypotonia, hepatomegaly, increased serum creatine kinase activities, and lactic acidosis. Both infants were treated with gavage feeding, the boy also needing ventila...
متن کاملAlterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency
BACKGROUND Sirtuins are NAD+ dependent deacetylases, which regulate mitochondrial energy metabolism as well as cellular response to stress. The NAD/NADH-system plays a crucial role in oxidative phosphorylation linking sirtuins and the mitochondrial respiratory chain. Furthermore, sirtuins are able to directly deacetylate and activate different complexes of the respiratory chain. This prompted u...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2000
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-200011000-00004