Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome with deficiency of cytochrome-c-oxidase in cardiac and skeletal muscle

Müller‐Höcker, Josef; Johannes, A.; Droste, M.; Kadenbach, Bernhard; Pongratz, D.; Hübner, Gerhard

doi:10.1007/bf02889977

Cited by 60 publications

(7 citation statements)

References 35 publications

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“…cardiomyopathy [105]. In some patients, the mitochondrial dysfunction is treatable by supplementation with vitamins, coenzyme Q and / or carnitine.…”

Section: Nuclear Mutations In Mitochondrial Componentsmentioning

confidence: 99%

Mitochondrial pathology in cardiac failure

Marı́n-Garcı́a

2001

Cardiovascular Research

122

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“…cardiomyopathy [105]. In some patients, the mitochondrial dysfunction is treatable by supplementation with vitamins, coenzyme Q and / or carnitine.…”

Section: Nuclear Mutations In Mitochondrial Componentsmentioning

confidence: 99%

Mitochondrial pathology in cardiac failure

Marı́n-Garcı́a

2001

Cardiovascular Research

122

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“…Specific defects of complex I [24,28], complex III [29], complex IV [7,21,39], complex III+ IV [6,20,30] and, most frequently, complex I + IV [33,34,40] have been described. There have also been reports of mitochondrial cardiomyopathy in Kearns-Sayre syndrome, with focal deficiency of cytochrome c oxidase in cardiac and skeletal muscle [25]; this presumably reflects the non-uniform distribution of normal and deleted mitochondrial DNA (mtDNA) in that disease [35]. Isolated cardiomyocytes deficient in cytochrome c oxidase were also observed in our patient, suggesting the possibility of a mitochondrially encoded defect [26].…”

Section: Discussionmentioning

confidence: 60%

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

Ibel¹,

Endres²,

Hadorn³

et al. 1993

Eur J Pediatr

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In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency. Analyses of the respiratory chain in postmortem tissues demonstrated severe impairment of complex I (NADH ubiquinone oxidoreductase) and complex IV (cytochrome c oxidase) activities in skeletal muscle and reduced complex IV activity in heart.

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“…These modifications induced by Cu lead to the regression of pathological cardiac hypertrophy. activity was observed in human hearts with cardiac hypertrophy (Muller-Hocker et al, 1986;Zeviani et al, 1986;Buchwald et al, 1990). A clinical study found that the nuclear encoded subunits of CCO were diminished in the pathologically hypertrophic hearts (Liebes & Medeiros, 1997).…”

Section: Depressed Cco Activity In Cardiac Hypertrophymentioning

confidence: 96%