MitoCom Diagnostic Concept
Diagnostic Concept
Mitochondrial competence. Regional and international cooperation for establishing new standards in functional mitochondrial diagnosis
Martin Burtscher,1 Hermann Dietrich,2 Hannes Gatterer,1 Erich Gnaiger2,3,* David Harrison,3 Daniela Karall,2 Martin Krismer,2 Cornelia Lass-Floerl,2 Walther Parson,2 Susanne Perkhofer,2 Dominik Pesta,2 Michael Schocke,2 Zuzana Sumbalova,3 Anita Wiethüchter3
MitoCom Network Tyrol, 1Leopold-Franzens-University of Innsbruck,2Medical University of Innsbruck, 3Oroboros Instruments A-6020 Innsbruck, Austria
- Email: [email protected]; Tel: +43 512 566796; Fax: +43 512 56679620
This is an Abstract presented at UMDF Mitochondrial Medicine; 2011 June 15-18, Chicago, USA
Diagnostic methods for the evaluation of functional mitochondrial competence (MitoCom) are applied in diverse areas of clinical research, including inborn diseases, ageing, degenerative neuromuscular disorders, ischemia, cancer, and pharmatoxicology. Such investigations of oxidative phosphorylation (OXPHOS) play an increasingly important role in relating mitochondrial health to life style (exercise and nutrition), mitochondrial haplogroups and heteroplasmy, and individual training programs of competitive athletes.
Clinical mitochondrial physiology shares common problems: lack of a comprehensive and standardized diagnostic methodology, limited implementation of quality assurance procedures, and the difficulty of delineating healthy controls. Without a more complete understanding of the mitochondrial physiology in tissues of healthy humans and animal models, there is limited diagnostic potential to analyze a disease and monitor scores of mitochondrial health. Appreciation of tissue and species diversity of mitochondrial function from mouse to man1 has been concealed by a focus on unifying biochemical concepts but insufficient integration into the living systems. This is the challenge of present developments in systems biology, which is at the heart of mitochondrial physiology as applied to enhancing our understanding of the complexity of mitochondrial health, and which will provide a gateway to better diagnose, support and treat patients in our modern, rapidly ageing societies.
Mitochondrial capacity and control of OXPHOS (oxygen consumption and ATP production)1 needs to be related to tissue performance (PCr depletion and Pi accumulation by 31P-NMR, contractile muscular function and PCr recovery), and cardiopulmonary and cardiovascular functions (oxygen supply to the tissue).2 The need for such interdisciplinary efforts, has led to international studies to investigate the complexity of the respiratory cascade from lung to the intracellular environment together with the mitochondrial electron transfer and phosphorylation system.3 Translation into the clinical diagnostic setting requires the establishment of regional centers with inter-departmental cooperations and new partnerships, to overcome conventional barriers between academia and industry and between scientific innovation and implementation into the healthcare system (www.bioblast.at/index.php/MitoCom). Appreciation by politicians and communication with an aspirational general public are essential to benefit from world-class research, for comprehensive mitochondrial and exercise testing and implementation of exercise as a medicine, and the development of a scientific foundation that may allow us to translate the complex diagnostic results into a patient-related mitochondrial score, based on cooperation in regional and international mitochondrial networks, exchange of expertise and standardization of diagnostic approaches, in a joint effort to helping mitochondrial patients and making a difference to society.
2Burtscher M, Schocke M, Koch R (2011) Ventilation-limited exercise capacity in a 59-year-old athlete. Respir. Physiol. Neurobiol. 175: 181-184.
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