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 language | English |
---|---|
Pages (from-to) | 36-43 |
Journal | Mitochondrion |
Volume | 13 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jan 2013 |
Keywords
- Respiratory chain
- Diagnosis
- Enzyme activity
- Mitochondrial disease
- Muscle
- Fibroblasts