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Mitochondrion. 2013 Jan;13(1):36-43. doi: 10.1016/j.mito.2012.11.004. Epub 2012 Nov 17.

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

Author information

1
774 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands. r.rodenburg@cukz.umcn.nl

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.

PMID:
23164799
PMCID:
PMC3919210
DOI:
10.1016/j.mito.2012.11.004
[Indexed for MEDLINE]
Free PMC Article
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