Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders
M Spinazzi, A Casarin, V Pertegato, M Ermani… - Mitochondrion, 2011 - Elsevier
The diagnosis of mitochondrial disorders is difficult due to clinical and genetic heterogeneity.
Measurements of mitochondrial respiratory chain (RC) enzyme activities are essential for
both clinical diagnoses and many basic research questions. Current protocols for RC
analysis are not standardized, and so are prone to inter-laboratory variability, and also to
biochemical interferences that lead to analytical discrepancies. Moreover, knowledge of the
analytical performances of these assays, which is essential to draw meaningful conclusions …
Measurements of mitochondrial respiratory chain (RC) enzyme activities are essential for
both clinical diagnoses and many basic research questions. Current protocols for RC
analysis are not standardized, and so are prone to inter-laboratory variability, and also to
biochemical interferences that lead to analytical discrepancies. Moreover, knowledge of the
analytical performances of these assays, which is essential to draw meaningful conclusions …