{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:23:10Z","timestamp":1789690990966,"version":"4.0.1"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":5820,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1988,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Examination of oxidative metabolism in mitochondria isolated from quadriceps skeletal muscle biopsy specimens of 4 patients with Kearns\u2010Sayre syndrome has shown that the mitochondria were tightly coupled, with maximal respiratory rates depending on the presence of adenosine diphosphate (ADP), Ca<jats:sup>2+<\/jats:sup>, or uncoupler. The state 3 respiratory rates with nicotinamide adenine dinucleotide (NAD)\u2014linked substrates and succinate were much lower than those of control subjects. The cytochrome oxidase activities (measured with ascorbate + phenazine methosulfate as substrates) were also Decemberreased, but this segment of the respiratory chain was not rate\u2010limiting for succinate or NAD\u2010linked substrate oxidation. Analyses of the steady\u2010state reduction kinetics of the respiratory chain carriers revealed that the rate\u2010limiting step of the impaired respiration with succinate or NAD\u2010linked substrates lies between the <jats:italic>c<\/jats:italic> cytochromes and cytochrome oxidase. Measurement of the total substrate\u2010reducible (at anaerobiosis) and chemically reducible levels of the cytochromes in mitochondria from 3 patients showed a severe deficiency of cytochrome <jats:italic>a + a<jats:sub>3<\/jats:sub><\/jats:italic> and an excess of the <jats:italic>c<\/jats:italic> cytochromes. To our knowledge, this is the first instance in which a mitochondrial electron transfer defect and cytochrome oxidase deficiency has been shown to be associated with an excess of the <jats:italic>c<\/jats:italic> cytochromes.<\/jats:p>","DOI":"10.1002\/ana.410240507","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:05:13Z","timestamp":1104588313000},"page":"630-637","source":"Crossref","is-referenced-by-count":25,"title":["Kearns\u2010sayre syndrome: Biochemical studies of mitochondrial metabolism"],"prefix":"10.1002","volume":"24","author":[{"given":"M. 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