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

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919210/
https://www.ncbi.nlm.nih.gov/pubmed/23164799
http://dx.doi.org/10.1016/j.mito.2012.11.004
Descripción
Sumario: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.

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