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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 218 (1978), S. 149-156 
    ISSN: 1432-1459
    Keywords: Carnitine ; Palmitate ; Metabolism ; In vitro ; Muscle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Der Carnitingehalt im Kulturmedium von Zellkulturen normalen und pathologischen menschlichen Muskels wurde in verschiedenen Fällen, unter anderem bei systemischem Carnitinmangel bestimmt. Der Carnitingehalt war sowohl in den Zellkulturen von normalem wie von pathologischem Muskel der gleiche. Es wurde nie Carnitin im Kulturmedium gefunden. Vereinzelte Fibroblasten und Myoblasten waren mit Neutralfett gefüllt. 14C-Palmitat, welches dem Kulturmedium zugefügt wurde, wurde durch S.C.D.-Fibroblasten oder Myoblasten in gleichem Ausmaß sowohl in normalen wie in pathologischen Zellen eingebaut. Es scheinen somit andere Faktoren als das Carnitin für die Fettansammlung in der S.C.D.-Zellkultur verantwortlich zu sein.
    Notes: Summary The carnitine content of the culture media for normal and pathological human muscles, including a case of systemic carnitine deficiency (SCD) was measured and the carnitine concentration was the same in all normal and pathological muscle culture media. Carnitine was never detected in growth medium. Some fibroblasts and myoblasts were filled with neutral lipids in SCD. 14C-palmitate added to the medium was incorporated by SCD fibroblasts or myoblasts to the same concentration as in normal or pathological cells. Factors other than carnitine seem to account for the lipid accumulation of SCD in cell culture.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1459
    Keywords: Mitochondria ; Muscle ; NADH-CoQ reductase ; 31P nuclear magnetic resonance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 34-year-old man affected by exercise intolerance, mild proximal weakness and severe lactic acidosis is described. Muscle biopsy revealed mitochondrial abnormalities and an increase of cytochrome c oxidase histochemical reaction. Biochemical investigations on isolated muscle mitochondria as well as polarographic studies revealed a mitochondrial NADH-CoQ reductase (complex I) deficiency. Mitochondrial dysfunction was confirmed by 31P nuclear magnetic resonance spectroscopy. Immunological investigation showed a generalized reduction of all complex I polypeptides. Genetic analysis did not reveal mitochondrial DNA deletions. The biochemical defect was not present in the patient's muscle tissue culture. Metabolic measurements and functional evaluation showed a reduced mechanical efficiency during exercise.
    Type of Medium: Electronic Resource
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