2013
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders
Publication
Publication
Mitochondrion , Volume 13 - Issue 1 p. 36- 43
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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| doi.org/10.1016/j.mito.2012.11.004, hdl.handle.net/1765/61070 | |
| Mitochondrion | |
| Organisation | Department of Neurology |
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Rodenburg, R., Schoonderwoerd, K., Tiranti, V., Taylor, R. W., Rötig, A., Valente, J., Invernizzi, F., Chretien, D., L. He (Langping), Backx, G. P. B. M., Janssen, K., Chinnery, P., Smeets, H. J., de Coo, R.& van den Heuvel, L. (2013). A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders. Mitochondrion, 13(1), 36–43.https://doi.org/10.1016/j.mito.2012.11.004 |
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