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Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.
Biol Res. 2016 Jan 08; 49:4.BR

Abstract

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.

Authors+Show Affiliations

School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France. fragaki.k@chu-nice.fr. Department of Medical Genetics, Nice Teaching Hospital, National Centre for Mitochondrial Diseases, Nice, France. fragaki.k@chu-nice.fr.School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France. chaussenot.c@chu-nice.fr. Department of Medical Genetics, Nice Teaching Hospital, National Centre for Mitochondrial Diseases, Nice, France. chaussenot.c@chu-nice.fr.Department of Biochemistry, Robert Debre Hospital, Paris, France. jean-francois.benoist@rdb.aphp.fr.School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France. saadi.s@chu-nice.fr. Department of Medical Genetics, Nice Teaching Hospital, National Centre for Mitochondrial Diseases, Nice, France. saadi.s@chu-nice.fr.School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France. bannwarth.s@chu-nice.fr. Department of Medical Genetics, Nice Teaching Hospital, National Centre for Mitochondrial Diseases, Nice, France. bannwarth.s@chu-nice.fr.School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France. rouzier.c@chu-nice.fr. Department of Medical Genetics, Nice Teaching Hospital, National Centre for Mitochondrial Diseases, Nice, France. rouzier.c@chu-nice.fr.School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France. cochaud.c@chu-nice.fr.School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France. paquis@hermes.unice.fr. Department of Medical Genetics, Nice Teaching Hospital, National Centre for Mitochondrial Diseases, Nice, France. paquis@hermes.unice.fr.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26742794

Citation

Fragaki, Konstantina, et al. "Coenzyme Q10 Defects May Be Associated With a Deficiency of Q10-independent Mitochondrial Respiratory Chain Complexes." Biological Research, vol. 49, 2016, p. 4.
Fragaki K, Chaussenot A, Benoist JF, et al. Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes. Biol Res. 2016;49:4.
Fragaki, K., Chaussenot, A., Benoist, J. F., Ait-El-Mkadem, S., Bannwarth, S., Rouzier, C., Cochaud, C., & Paquis-Flucklinger, V. (2016). Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes. Biological Research, 49, 4. https://doi.org/10.1186/s40659-015-0065-0
Fragaki K, et al. Coenzyme Q10 Defects May Be Associated With a Deficiency of Q10-independent Mitochondrial Respiratory Chain Complexes. Biol Res. 2016 Jan 8;49:4. PubMed PMID: 26742794.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes. AU - Fragaki,Konstantina, AU - Chaussenot,Annabelle, AU - Benoist,Jean-François, AU - Ait-El-Mkadem,Samira, AU - Bannwarth,Sylvie, AU - Rouzier,Cécile, AU - Cochaud,Charlotte, AU - Paquis-Flucklinger,Véronique, Y1 - 2016/01/08/ PY - 2015/09/24/received PY - 2015/12/30/accepted PY - 2016/1/9/entrez PY - 2016/1/9/pubmed PY - 2016/11/2/medline SP - 4 EP - 4 JF - Biological research JO - Biol Res VL - 49 N2 - 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. SN - 0717-6287 UR - https://www.unboundmedicine.com/medline/citation/26742794/Coenzyme_Q10_defects_may_be_associated_with_a_deficiency_of_Q10_independent_mitochondrial_respiratory_chain_complexes_ L2 - https://biolres.biomedcentral.com/articles/10.1186/s40659-015-0065-0 DB - PRIME DP - Unbound Medicine ER -