Biochemical analysis of fibroblasts from patients with cytochrome c oxidase-associated Leigh syndrome
نویسندگان
چکیده
منابع مشابه
Assembly 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 کاملDecreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.
Mutations in the gene SURF1 prevent synthesis of cytochrome-c oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome. Because this severe COX deficiency presents with barely detectable changes of cellular respiratory rates under normoxic conditions, we analyzed the respiratory response to low oxygen in cultured fibroblasts harboring SURF1 mutations w...
متن کاملLoss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site m...
متن کاملUpregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts
Cytochrome-c-oxidase (COX) deficiency is a frequent cause of mitochondrial disease and is associated with a wide spectrum of clinical phenotypes. We studied mitochondrial function and biogenesis in fibroblasts derived from the Cohen (CDs) rat, an animal model of COX deficiency. COX activity in CDs-fibroblasts was 50% reduced compared to control rat fibroblasts (P<0.01). ROS-production in CDs fi...
متن کاملCytochrome c oxidase from Azotobacter vinelandii.
Although the terminal respiratory chain of Azotobacter has been the subject of several recent studies, the nature of the cytochrome oxidase portion is still somewhat obscure. Repaske (1) partially purified and characterized a soluble succinic dehydrogenase and succinoxidase system from Azotobacter z&elan&i. Wilson and Wilson (2) studied the soluble succinoxidase in Repaske’s preparation and dem...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 1996
ISSN: 0925-4439
DOI: 10.1016/0925-4439(96)00005-1