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
URL:
http://dx.doi.org/10.1007/BF00314729
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