A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

RJT Rodenburg; Kees Schoonderwoerd; V Tiranti; RW Taylor; A Rotig; L Valente; F Invernizzi; D Chretien; L He; GPBM Backx; KJGM Janssen; PF Chinnery; HJ Smeets; IFM Coo; LP van den Heuvel

doi:10.1016/j.mito.2012.11.004

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

RJT Rodenburg, Kees Schoonderwoerd, V Tiranti, RW Taylor, A Rotig, L Valente, F Invernizzi, D Chretien, L He, GPBM Backx, KJGM Janssen, PF Chinnery, HJ Smeets, IFM Coo, LP van den Heuvel

Research output: Contribution to journal › Article › Academic › peer-review

21 Citations (Scopus)

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. (c) 2012 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Original language	Undefined/Unknown
Pages (from-to)	36-43
Number of pages	8
Journal	Mitochondrion
Volume	13
Issue number	1
DOIs	https://doi.org/10.1016/j.mito.2012.11.004
Publication status	Published - 2013

Research programs

EMC MGC-02-96-01
EMC MM-04-44-02

Access to Document

10.1016/j.mito.2012.11.004

http://hdl.handle.net/1765/61070

Cite this

Rodenburg, RJT., Schoonderwoerd, K., Tiranti, V., Taylor, RW., Rotig, A., Valente, L., Invernizzi, F., Chretien, D., He, L., Backx, GPBM., Janssen, KJGM., Chinnery, PF., Smeets, HJ., Coo, IFM., & van den Heuvel, LP. (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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Rodenburg, RJT, Schoonderwoerd, K, Tiranti, V, Taylor, RW, Rotig, A, Valente, L, Invernizzi, F, Chretien, D, He, L, Backx, GPBM, Janssen, KJGM, Chinnery, PF, Smeets, HJ, Coo, IFM & van den Heuvel, LP 2013, 'A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders', Mitochondrion, vol. 13, no. 1, pp. 36-43. https://doi.org/10.1016/j.mito.2012.11.004

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T1 - A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

AU - Rodenburg, RJT

AU - Schoonderwoerd, Kees

AU - Tiranti, V

AU - Taylor, RW

AU - Rotig, A

AU - Valente, L

AU - Invernizzi, F

AU - Chretien, D

AU - He, L

AU - Backx, GPBM

AU - Janssen, KJGM

AU - Chinnery, PF

AU - Smeets, HJ

AU - Coo, IFM

AU - van den Heuvel, LP

PY - 2013

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N2 - 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. (c) 2012 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

AB - 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. (c) 2012 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

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