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J. Clin. Med. 2017, 6(3), 27; doi:10.3390/jcm6030027

Biochemical Assessment of Coenzyme Q10 Deficiency

1
Laboratorio de Fisiopatología Celular y Bioenergética, 41013 Sevilla, Spain
2
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CISC, 41013 Sevilla, Spain
3
Centro Andaluz de Biología del Desarrollo, 41013 Sevilla, Spain
*
Author to whom correspondence should be addressed.
Academic Editor: Iain P. Hargreaves
Received: 18 January 2017 / Revised: 25 February 2017 / Accepted: 28 February 2017 / Published: 5 March 2017
View Full-Text   |   Download PDF [956 KB, uploaded 5 March 2017]   |  

Abstract

Coenzyme 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
Keywords: coenzyme Q10; CoQ10 deficiency syndrome; CoQ10 biosynthesis; mitochondria diseases coenzyme Q10; CoQ10 deficiency syndrome; CoQ10 biosynthesis; mitochondria diseases
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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.

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