A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders
- Rodenburg, R. J. T.
- Schoonderwoerd, G. C.
- Tiranti, V.
- Taylor, R. W.
- Roetig, A.
- Valente, L.
- Invernizzi, F.
- Chretien, D.
- He, L.
- Backx, G. P. B. M.
- Janssen, K. J. G. M.
- Chinnery, P. F.
- Smeets, H. J.
- de Coo, I. F.
- van den Heuvel, L. P.
Publication date
January 2013
DOIAbstract
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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