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  • 1
    Electronic Resource
    Electronic Resource
    Fatal combined defects in mitochondrial multienzyme complexes in two siblings (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 347-352 
    Details
    ISSN: 1432-1076
    Keywords: Multiple respiratory chain defects ; Skin fibroblasts ; Pyruvate dehydrogenase complex
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A female child suffering from intrauterine growth retardation was born by caesarean section at 32 weeks. In the immediate newborn period there was a metabolic acidosis but this resolved. Hypotonia, muscular weakness and poor respiratory effort were evident and the child died at 6 days of age. A previous male sibling had died at 3 months of age after similar symptoms with seizures and a dysmyelination disorder. Post-mortem examination of both children showed damage to the basal ganglia. Defects in the activities of the pyruvate dehydrogenase complex, cytochrome oxidase and succinate cytochrome c reductase were found in cultured skin fibroblasts. Similar defects were found in isolated muscle mitochondria but not in isolated liver mitochondria from the patient. Immunoblotting for cytochrome oxidase showed that the multienzyme complex was not assembled in muscle and skin fibroblast mitochondria, but was assembled in liver mitochondria. Similar results were obtained in cultured skin fibroblast mitochondria for complex I of the mitochondrial respiratory chain. This is the first occasion that multiple defects have been demonstrated both in tissue and in culture skin fibroblasts in mitochondrial respiratory chain complexes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02113256
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    MtDNA and nuclear mutations affecting oxidative phosphorylation: Correlating severity of clinical defect with extent of bioenergetic compromise (1994)
    Springer
    Journal of bioenergetics and biomembranes 26 (1994), S. 311-316 
    Details
    ISSN: 1573-6881
    Keywords: ATP synthesis ; mtDNA ; complex I ; complex IV ; complex V
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract Rates of ATP synthesis were studied in cultured skin fibroblasts treated with digitonin. In fibroblasts from patients with complex I deficiency, complex IV and complex V deficiency rates of ATP synthesis were decreased below the levels found in controls. In mitochondria isolated from cultured lymphoblasts, ATP synthesis was also decreased by 35–50% in cases of Leigh's disease due to complex I, complex IV, or complex V deficiency. Calculating the effect of the mutations in the various complexes on the overall efficiency of oxidative phosphorylation, we show that the mtDNA 8993 mutation which affects the activity of the F1F0 ATPase (complex V) has the strongest effect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00763102
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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