Mitochondrial diseases (MD) with respiratory chain defects are caused by genetic mutations that determine an impairment of the electron transport chain functioning. Diagnosis often requires a complex approach with measurements of serum lactate, magnetic resonance spectroscopy (MRS), muscle histology and ultrastructure, enzymology, genetic analysis, and exercise testing. The ubiquitous distribution of the mitochondria in the human body explains the multiple organ involvement. Exercise intolerance is a common symptom of MD, due to increased dependence of skeletal muscle on anaerobic metabolism, with an excess lactate generation, phosphocreatine depletion, enhanced free radical production, reduced oxygen extraction and electron flux through the respiratory chain. MD treatment has included antioxidants (vitamin E, alpha lipoic acid), coenzyme Q10, riboflavin, creatine monohydrate, dichloroacetate and exercise training. Exercise is a particularly important tool in diagnosis as well as in the management of these diseases.
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Research Article|
June 13 2007
Functional Diagnostics in Mitochondrial Diseases
Gabriele Siciliano;
Gabriele Siciliano
1Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126 Pisa, Italy
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Leda Volpi;
Leda Volpi
1Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126 Pisa, Italy
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Selina Piazza;
Selina Piazza
1Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126 Pisa, Italy
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Giulia Ricci;
Giulia Ricci
1Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126 Pisa, Italy
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Michelangelo Mancuso;
Michelangelo Mancuso
1Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126 Pisa, Italy
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Luigi Murri
Luigi Murri
1Department of Neuroscience, Section of Neurology, University of Pisa, Via Roma 67, 56126 Pisa, Italy
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Publisher: Portland Press Ltd
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© 2007 The Biochemical Society
2007
Biosci Rep (2007) 27 (1-3): 53–67.
Citation
Gabriele Siciliano, Leda Volpi, Selina Piazza, Giulia Ricci, Michelangelo Mancuso, Luigi Murri; Functional Diagnostics in Mitochondrial Diseases. Biosci Rep 13 June 2007; 27 (1-3): 53–67. doi: https://doi.org/10.1007/s10540-007-9037-0
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