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Biochemical Assessment of Coenzyme Q(10) 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 pri...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372996/ https://www.ncbi.nlm.nih.gov/pubmed/28273876 http://dx.doi.org/10.3390/jcm6030027 |
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author | Rodríguez-Aguilera, Juan Carlos Cortés, Ana Belén Fernández-Ayala, Daniel J. M. Navas, Plácido |
author_facet | Rodríguez-Aguilera, Juan Carlos Cortés, Ana Belén Fernández-Ayala, Daniel J. M. Navas, Plácido |
author_sort | Rodríguez-Aguilera, Juan Carlos |
collection | PubMed |
description | 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 β-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. |
format | Online Article Text |
id | pubmed-5372996 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-53729962017-04-05 Biochemical Assessment of Coenzyme Q(10) Deficiency Rodríguez-Aguilera, Juan Carlos Cortés, Ana Belén Fernández-Ayala, Daniel J. M. Navas, Plácido J Clin Med Review 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 β-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. MDPI 2017-03-05 /pmc/articles/PMC5372996/ /pubmed/28273876 http://dx.doi.org/10.3390/jcm6030027 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Rodríguez-Aguilera, Juan Carlos Cortés, Ana Belén Fernández-Ayala, Daniel J. M. Navas, Plácido Biochemical Assessment of Coenzyme Q(10) Deficiency |
title | Biochemical Assessment of Coenzyme Q(10) Deficiency |
title_full | Biochemical Assessment of Coenzyme Q(10) Deficiency |
title_fullStr | Biochemical Assessment of Coenzyme Q(10) Deficiency |
title_full_unstemmed | Biochemical Assessment of Coenzyme Q(10) Deficiency |
title_short | Biochemical Assessment of Coenzyme Q(10) Deficiency |
title_sort | biochemical assessment of coenzyme q(10) deficiency |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372996/ https://www.ncbi.nlm.nih.gov/pubmed/28273876 http://dx.doi.org/10.3390/jcm6030027 |
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