Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.

N J Watmough; L A Bindoff; M A Birch-Machin; S Jackson; K Bartlett; C I Ragan; J Poulton; R M Gardiner; H S Sherratt; D M Turnbull

doi:10.1172/JCI114409

Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Department of Clinical Neuroscience, University of Newcastle upon Tyne, England.

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Published in Volume 85, Issue 1 on January 1, 1990
J Clin Invest. 1990;85(1):177–184. https://doi.org/10.1172/JCI114409.
© 1990 The American Society for Clinical Investigation

Published January 1, 1990 - Version history

Defects of complex I of the mitochondrial respiratory chain are important causes of neurological disease. We report studies that demonstrate a severe deficiency of complex I activity with less severe abnormalities of complexes III and IV (less than 5, 63, and 30% of control values, respectively) in a skeletal muscle mitochondrial fraction from a 22-yr-old female with weakness, lactic acidemia, and the deposition of intramuscular neutral lipid. The observation that lipid accumulates in this and other patients with complex I deficiency suggests impaired mitochondrial fatty acid oxidation. To investigate this mechanism we have shown impaired flux through beta-oxidation [( U-14C]hexadecanoate oxidation was 66% of control rate) and accumulation of specific acyl-CoA ester intermediates. The changes in fatty acid metabolism in complex I deficiency are secondary to the reduced state within the mitochondrial matrix with low NAD+/NADH ratios.

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Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.

N J Watmough, L A Bindoff, M A Birch-Machin, S Jackson, K Bartlett, C I Ragan, J Poulton, R M Gardiner, H S Sherratt, and D M Turnbull

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Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.

N J Watmough, L A Bindoff, M A Birch-Machin, S Jackson, K Bartlett, C I Ragan, J Poulton, R M Gardiner, H S Sherratt, and D M Turnbull

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