A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.
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ABSTRACT:
SUBMITTER: Rodenburg RJ
PROVIDER: S-EPMC3919210 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Publications
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.
Rodenburg R J T RJ Schoonderwoerd G C GC Tiranti V V Taylor R W RW Rötig A A Valente L L Invernizzi F F Chretien D D He L L Backx G P B M GP Janssen K J G M KJ Chinnery P F PF Smeets H J HJ de Coo I F IF van den Heuvel L P LP
Mitochondrion 20121117 1
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 variatio ...[more]
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