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
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 - Jan 2013

Keywords

Respiratory chain
Diagnosis
Enzyme activity
Mitochondrial disease
Muscle
Fibroblasts

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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

@article{78784cfe560a4f2099551c18444bf979,

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.\}",

year = "2013",

month = jan,

doi = "10.1016/j.mito.2012.11.004",

language = "English",

volume = "13",

pages = "36--43",

journal = "Mitochondrion",

issn = "1567-7249",

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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 - Rodenburg, R. J. T.

AU - Schoonderwoerd, G. C.

AU - Tiranti, V.

AU - Taylor, R. W.

AU - Roetig, A.

AU - Valente, L.

AU - Invernizzi, F.

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.

PY - 2013/1

Y1 - 2013/1

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.

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.

KW - Respiratory chain

KW - Diagnosis

KW - Enzyme activity

KW - Mitochondrial disease

KW - Muscle

KW - Fibroblasts

U2 - 10.1016/j.mito.2012.11.004

DO - 10.1016/j.mito.2012.11.004

M3 - Article

C2 - 23164799

SN - 1567-7249

VL - 13

SP - 36

EP - 43

JO - Mitochondrion

JF - Mitochondrion

IS - 1

ER -

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

Abstract

Keywords

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