Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral C...

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Autores principales:	Fragaki,Konstantina, Chaussenot,Annabelle, Benoist,Jean-François, Ait-El-Mkadem,Samira, Bannwarth,Sylvie, Rouzier,Cécile, Cochaud,Charlotte, Paquis-Flucklinger,Véronique
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2016
Materias:	Mitochondrial disease CoQ10 deficiency Respiratory chain Spectrophotometry LC-MSMS
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100004
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spelling	oai:scielo:S0716-976020160001000042016-12-01Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexesFragaki,KonstantinaChaussenot,AnnabelleBenoist,Jean-FrançoisAit-El-Mkadem,SamiraBannwarth,SylvieRouzier,CécileCochaud,CharlottePaquis-Flucklinger,Véronique Mitochondrial disease CoQ10 deficiency Respiratory chain Spectrophotometry LC-MSMS BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral CoQ10 supplementation. Thus, early diagnosis, first evoked by mitochondrial respiratory chain (MRC) spectrophotometric analysis, then confirmed by direct measurement of CoQ10 levels, is of critical importance to prevent irreversible damage in organs such as the kidney and the central nervous system. It is widely reported that CoQ10 deficient patients present decreased quinone-dependent activities (segments I + III or G3P + III and II + III) while MRC activities of complexes I, II, III, IV and V are normal. We previously suggested that CoQ10 defect may be associated with a deficiency of CoQ10-independent MRC complexes. The aim of this study was to verify this hypothesis in order to improve the diagnosis of this disease. RESULTS: To determine whether CoQ10 defect could be associated with MRC deficiency, we quantified CoQ10 by LC-MSMS in a cohort of 18 patients presenting CoQ10-dependent deficiency associated with MRC defect. We found decreased levels of CoQ10 in eight patients out of 18 (45 %), thus confirming CoQ10 disease. CONCLUSIONS: Our study shows that CoQ10 defect can be associated with MRC deficiency. This could be of major importance in clinical practice for the diagnosis of a disease that can be improved by CoQ10 supplementation.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.49 20162016-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100004en10.1186/s40659-015-0065-0
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Mitochondrial disease CoQ10 deficiency Respiratory chain Spectrophotometry LC-MSMS
spellingShingle	Mitochondrial disease CoQ10 deficiency Respiratory chain Spectrophotometry LC-MSMS Fragaki,Konstantina Chaussenot,Annabelle Benoist,Jean-François Ait-El-Mkadem,Samira Bannwarth,Sylvie Rouzier,Cécile Cochaud,Charlotte Paquis-Flucklinger,Véronique Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
description	BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral CoQ10 supplementation. Thus, early diagnosis, first evoked by mitochondrial respiratory chain (MRC) spectrophotometric analysis, then confirmed by direct measurement of CoQ10 levels, is of critical importance to prevent irreversible damage in organs such as the kidney and the central nervous system. It is widely reported that CoQ10 deficient patients present decreased quinone-dependent activities (segments I + III or G3P + III and II + III) while MRC activities of complexes I, II, III, IV and V are normal. We previously suggested that CoQ10 defect may be associated with a deficiency of CoQ10-independent MRC complexes. The aim of this study was to verify this hypothesis in order to improve the diagnosis of this disease. RESULTS: To determine whether CoQ10 defect could be associated with MRC deficiency, we quantified CoQ10 by LC-MSMS in a cohort of 18 patients presenting CoQ10-dependent deficiency associated with MRC defect. We found decreased levels of CoQ10 in eight patients out of 18 (45 %), thus confirming CoQ10 disease. CONCLUSIONS: Our study shows that CoQ10 defect can be associated with MRC deficiency. This could be of major importance in clinical practice for the diagnosis of a disease that can be improved by CoQ10 supplementation.
author	Fragaki,Konstantina Chaussenot,Annabelle Benoist,Jean-François Ait-El-Mkadem,Samira Bannwarth,Sylvie Rouzier,Cécile Cochaud,Charlotte Paquis-Flucklinger,Véronique
author_facet	Fragaki,Konstantina Chaussenot,Annabelle Benoist,Jean-François Ait-El-Mkadem,Samira Bannwarth,Sylvie Rouzier,Cécile Cochaud,Charlotte Paquis-Flucklinger,Véronique
author_sort	Fragaki,Konstantina
title	Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
title_short	Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
title_full	Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
title_fullStr	Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
title_full_unstemmed	Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
title_sort	coenzyme q10 defects may be associated with a deficiency of q10-independent mitochondrial respiratory chain complexes
publisher	Sociedad de Biología de Chile
publishDate	2016
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100004
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Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

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