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

R. J. T. Rodenburg; G. C. Schoonderwoerd; V. Tiranti; R. W. Taylor; A. Roetig; L. Valente; F. Invernizzi; D. Chretien; L. He; G. P. B. M. Backx; K. J. G. M. Janssen; P. F. Chinnery; H. J. Smeets; I. F. de Coo; L. P. 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

R. J. T. Rodenburg^*, G. C. Schoonderwoerd, V. Tiranti, R. W. Taylor, A. Roetig, L. Valente, F. Invernizzi, D. Chretien, L. He, G. P. B. M. Backx, K. J. G. M. Janssen, P. F. Chinnery, H. J. Smeets, I. F. de Coo, L. P. van den Heuvel

^*Corresponding author for this work

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

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.

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

Keywords

Respiratory chain
Diagnosis
Enzyme activity
Mitochondrial disease
Muscle
Fibroblasts

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Cite this

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. (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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title = "A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders",

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. ",

keywords = "Respiratory chain, Diagnosis, Enzyme activity, Mitochondrial disease, Muscle, Fibroblasts",

author = "Rodenburg, {R. J. T.} and Schoonderwoerd, {G. C.} and V. Tiranti and Taylor, {R. W.} and A. Roetig and L. Valente and F. Invernizzi and D. Chretien and L. He and Backx, {G. P. B. M.} and Janssen, {K. J. G. M.} and Chinnery, {P. F.} and Smeets, {H. J.} and {de Coo}, {I. F.} and {van den Heuvel}, {L. P.}",

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Rodenburg, RJT, Schoonderwoerd, GC, Tiranti, V, Taylor, RW, Roetig, A, Valente, L, Invernizzi, F, Chretien, D, He, L, Backx, GPBM, Janssen, KJGM, Chinnery, PF, Smeets, HJ, de Coo, IF & 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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AU - Tiranti, V.

AU - Taylor, R. W.

AU - Roetig, A.

AU - Valente, L.

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AU - Chretien, D.

AU - He, L.

AU - Backx, G. P. B. M.

AU - Janssen, K. J. G. M.

AU - Chinnery, P. F.

AU - Smeets, H. J.

AU - de Coo, I. F.

AU - van den Heuvel, L. P.

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KW - Respiratory chain

KW - Diagnosis

KW - Enzyme activity

KW - Mitochondrial disease

KW - Muscle

KW - Fibroblasts

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