Biochemical Assessment of Coenzyme Q10 Deficiency
AbstractCoenzyme Q10 (CoQ10) 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 CoQ10 biosynthesis. Mutations in any of these genes are responsible for the primary CoQ10 deficiency, but there are also different conditions that induce secondary CoQ10 deficiency including mitochondrial DNA (mtDNA) depletion and mutations in genes involved in the fatty acid β-oxidation pathway. The diagnosis of CoQ10 deficiencies is determined by the decrease of its content in skeletal muscle and/or dermal skin fibroblasts. Dietary CoQ10 supplementation is the only available treatment for these deficiencies that require a rapid and distinct diagnosis. Here we review methods for determining CoQ10 content by HPLC separation and identification using alternative approaches including electrochemical detection and mass spectrometry. Also, we review procedures to determine the CoQ10 biosynthesis rate using labeled precursors. View Full-Text
A printed edition of this Special Issue is available here.
Share & Cite This Article
Rodríguez-Aguilera, J.C.; Cortés, A.B.; Fernández-Ayala, D.J.M.; Navas, P. Biochemical Assessment of Coenzyme Q10 Deficiency. J. Clin. Med. 2017, 6, 27.
Rodríguez-Aguilera JC, Cortés AB, Fernández-Ayala DJM, Navas P. Biochemical Assessment of Coenzyme Q10 Deficiency. Journal of Clinical Medicine. 2017; 6(3):27.Chicago/Turabian Style
Rodríguez-Aguilera, Juan C.; Cortés, Ana B.; Fernández-Ayala, Daniel J.M.; Navas, Plácido. 2017. "Biochemical Assessment of Coenzyme Q10 Deficiency." J. Clin. Med. 6, no. 3: 27.
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.