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

Lookup NU author(s): Professor Robert Taylor, Dr Langping He, Professor Patrick Chinnery

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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.

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Author(s): Rodenburg RJT, Schoonderwoerd GC, Tiranti V, Taylor RW, Rotig A, Valente L, Invernizzi F, Chretien D, He L, Backx GPBM, Janssen KJGM, Chinnery PF, Smeets HJ, De Coo IF, van den Heuvel LP

Publication type: Article

Publication status: Published

Journal: Mitochondrion

Year: 2013

Volume: 13

Issue: 1

Pages: 36-43

Print publication date: 01/01/2013

Online publication date: 17/11/2012

Acceptance date: 07/11/2012

ISSN (print): 1567-7249

ISSN (electronic): 1872-8278

Publisher: Elsevier BV

URL: http://dx.doi.org/10.1016/j.mito.2012.11.004

DOI: 10.1016/j.mito.2012.11.004

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