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

Keywords

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

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

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