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. Rötig, 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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)36-43
Number of pages8
JournalMitochondrion
Volume13
Issue number1
DOIs
Publication statusPublished - Jan 2013

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Keywords

  • Diagnosis
  • Enzyme activity
  • Fibroblasts
  • Mitochondrial disease
  • Muscle
  • Respiratory chain

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

Cite this

Rodenburg, R. J. T., Schoonderwoerd, G. C., Tiranti, V., Taylor, R. W., Rötig, 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