Goldenthal et al. (Mol Gen and Metab 105 (2012) 457-462) recently published a method for evaluating respiratory chain (RC) complex I and IVÂ activityÂ and citrate synthaseÂ via a buccal swab sample. They report more than an 82% correlation between buccal sample and muscle tissueÂ deficiencies. Â The availability of this test adds to the arsenal of tools in the often times difficult to make diagnosis of mitochondrial disease. I have actually already had a patientÂ referred to me with results from this test, so it is already making its way into the clinical setting.
Hilary Vernon, MD PhD