A case of mitochondrial myopathy, lactic acidosis and complex I deficiency
|Published in||Journal of Neurology. 1990, vol. 237, no. 7, p. 399-404|
|Abstract||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.|
|Keywords||Acidosis, Lactic/etiology — Adenosine Triphosphate/metabolism — Adult — Cells, Cultured — DNA, Mitochondrial/analysis — Enzyme-Linked Immunosorbent Assay — Exercise/physiology — Humans — Magnetic Resonance Spectroscopy — Male — Mitochondria, Muscle/ultrastructure — Muscles/metabolism/ultrastructure — Muscular Diseases/genetics/metabolism/pathology — NAD(P)H Dehydrogenase (Quinone) — Oxygen Consumption/physiology — Phosphocreatine/metabolism — Quinone Reductases/deficiency|
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Faculté de médecine / Section de médecine clinique / Département de radiologie et informatique médicale
|Research group||Groupe Binzoni Tiziano (radiologie) (234)|
|BET, L et al. A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. In: Journal of Neurology, 1990, vol. 237, n° 7, p. 399-404. https://archive-ouverte.unige.ch/unige:89937|