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A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders |
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| Authors: | RJT Rodenburg GC Schoonderwoerd V Tiranti RW Taylor A Rötig L Valente F Invernizzi D Chretien L He GPBM Backx KJGM Janssen PF Chinnery HJ Smeets IF de Coo LP van den Heuvel |
| Institution: | 1. 774 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands;2. Department of Clinical Genetics, Erasmus MC, Dr. Molewaterplein 10, 3015 GE Rotterdam, The Netherlands;3. Division of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders of Infancy and Childhood, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy;4. Newcastle Mitochondrial NSCT Diagnostic Laboratory, Newcastle University, Newcastle upon Tyne, United Kingdom;5. Inserm U781, Hôpital Necker-Enfants Malades, Paris, France;6. Department of Genetics and Cell Biology, unit Clinical Genomics, Maastricht University, Maastricht, The Netherlands;7. Department of Neurology, Erasmus MC, Dr. Molewaterplein 10, 3015 GE Rotterdam, The Netherlands;8. Department of Pediatrics, Catholic University Leuven, 3000 Leuven, Belgium |
| Abstract: | A multicenter comparison of mitochondrial respiratory chain and complex V enzyme activity tests was performed. The average reproducibility of the enzyme assays is 16% in human muscle samples. In a blinded diagnostic accuracy test in patient fibroblasts and SURF1 knock-out mouse muscle, each lab made the correct diagnosis except for two complex I results. We recommend that enzyme activities be evaluated based on ratios, e.g. with complex IV or citrate synthase activity. In spite of large variations in observed enzyme activities, we show that inter-laboratory comparison of patient sample test results is possible by using normalization against a control sample. |
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