Biochemical Assessment of Coenzyme Q10 Deficiency

Coenzyme Q(10) (CoQ(10)) deficiency syndrome includes clinically heterogeneous mitochondrial diseases that show a variety of severe and debilitating symptoms. A multiprotein complex encoded by nuclear genes carries out CoQ(10) biosynthesis. Mutations in any of these genes are responsible for the primary CoQ(10) deficiency, but there are also different conditions that induce secondary CoQ(10) deficiency including mitochondrial DNA (mtDNA) depletion and mutations in genes involved in the fatty acid beta-oxidation pathway. The diagnosis of CoQ(10) deficiencies is determined by the decrease of its content in skeletal muscle and/or dermal skin fibroblasts. Dietary CoQ(10) supplementation is the only available treatment for these deficiencies that require a rapid and distinct diagnosis. Here we review methods for determining CoQ(10) content by HPLC separation and identification using alternative approaches including electrochemical detection and mass spectrometry. Also, we review procedures to determine the CoQ(10) biosynthesis rate using labeled precursors.