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Coenzyme Q biosynthesis in health and disease.
Biochim Biophys Acta. 2016 Aug; 1857(8):1079-1085.BB

Abstract

Coenzyme Q (CoQ, or ubiquinone) is a remarkable lipid that plays an essential role in mitochondria as an electron shuttle between complexes I and II of the respiratory chain, and complex III. It is also a cofactor of other dehydrogenases, a modulator of the permeability transition pore and an essential antioxidant. CoQ is synthesized in mitochondria by a set of at least 12 proteins that form a multiprotein complex. The exact composition of this complex is still unclear. Most of the genes involved in CoQ biosynthesis (COQ genes) have been studied in yeast and have mammalian orthologues. Some of them encode enzymes involved in the modification of the quinone ring of CoQ, but for others the precise function is unknown. Two genes appear to have a regulatory role: COQ8 (and its human counterparts ADCK3 and ADCK4) encodes a putative kinase, while PTC7 encodes a phosphatase required for the activation of Coq7. Mutations in human COQ genes cause primary CoQ(10) deficiency, a clinically heterogeneous mitochondrial disorder with onset from birth to the seventh decade, and with clinical manifestation ranging from fatal multisystem disorders, to isolated encephalopathy or nephropathy. The pathogenesis of CoQ(10) deficiency involves deficient ATP production and excessive ROS formation, but possibly other aspects of CoQ(10) function are implicated. CoQ(10) deficiency is unique among mitochondrial disorders since an effective treatment is available. Many patients respond to oral CoQ(10) supplementation. Nevertheless, treatment is still problematic because of the low bioavailability of the compound, and novel pharmacological approaches are currently being investigated. This article is part of a Special Issue entitled 'EBEC 2016: 19th European Bioenergetics Conference, Riva del Garda, Italy, July 2-6, 2016', edited by Prof. Paolo Bernardi.

Authors+Show Affiliations

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy. Electronic address: eva.trevisson@unipd.it.Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy. Electronic address: leonardo.salviati@unipd.it.

Pub Type(s)

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

Language

eng

PubMed ID

27060254

Citation

Acosta, Manuel Jesús, et al. "Coenzyme Q Biosynthesis in Health and Disease." Biochimica Et Biophysica Acta, vol. 1857, no. 8, 2016, pp. 1079-1085.
Acosta MJ, Vazquez Fonseca L, Desbats MA, et al. Coenzyme Q biosynthesis in health and disease. Biochim Biophys Acta. 2016;1857(8):1079-1085.
Acosta, M. J., Vazquez Fonseca, L., Desbats, M. A., Cerqua, C., Zordan, R., Trevisson, E., & Salviati, L. (2016). Coenzyme Q biosynthesis in health and disease. Biochimica Et Biophysica Acta, 1857(8), 1079-1085. https://doi.org/10.1016/j.bbabio.2016.03.036
Acosta MJ, et al. Coenzyme Q Biosynthesis in Health and Disease. Biochim Biophys Acta. 2016;1857(8):1079-1085. PubMed PMID: 27060254.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Coenzyme Q biosynthesis in health and disease. AU - Acosta,Manuel Jesús, AU - Vazquez Fonseca,Luis, AU - Desbats,Maria Andrea, AU - Cerqua,Cristina, AU - Zordan,Roberta, AU - Trevisson,Eva, AU - Salviati,Leonardo, Y1 - 2016/04/07/ PY - 2016/01/31/received PY - 2016/03/29/revised PY - 2016/03/30/accepted PY - 2016/4/10/entrez PY - 2016/4/10/pubmed PY - 2016/8/19/medline KW - Coenzyme Q KW - Coenzyme Q10 deficiency KW - Mitochondrial disorders KW - Steroid resistant nephrotic syndrome KW - Ubiquinone SP - 1079 EP - 1085 JF - Biochimica et biophysica acta JO - Biochim Biophys Acta VL - 1857 IS - 8 N2 - Coenzyme Q (CoQ, or ubiquinone) is a remarkable lipid that plays an essential role in mitochondria as an electron shuttle between complexes I and II of the respiratory chain, and complex III. It is also a cofactor of other dehydrogenases, a modulator of the permeability transition pore and an essential antioxidant. CoQ is synthesized in mitochondria by a set of at least 12 proteins that form a multiprotein complex. The exact composition of this complex is still unclear. Most of the genes involved in CoQ biosynthesis (COQ genes) have been studied in yeast and have mammalian orthologues. Some of them encode enzymes involved in the modification of the quinone ring of CoQ, but for others the precise function is unknown. Two genes appear to have a regulatory role: COQ8 (and its human counterparts ADCK3 and ADCK4) encodes a putative kinase, while PTC7 encodes a phosphatase required for the activation of Coq7. Mutations in human COQ genes cause primary CoQ(10) deficiency, a clinically heterogeneous mitochondrial disorder with onset from birth to the seventh decade, and with clinical manifestation ranging from fatal multisystem disorders, to isolated encephalopathy or nephropathy. The pathogenesis of CoQ(10) deficiency involves deficient ATP production and excessive ROS formation, but possibly other aspects of CoQ(10) function are implicated. CoQ(10) deficiency is unique among mitochondrial disorders since an effective treatment is available. Many patients respond to oral CoQ(10) supplementation. Nevertheless, treatment is still problematic because of the low bioavailability of the compound, and novel pharmacological approaches are currently being investigated. This article is part of a Special Issue entitled 'EBEC 2016: 19th European Bioenergetics Conference, Riva del Garda, Italy, July 2-6, 2016', edited by Prof. Paolo Bernardi. SN - 0006-3002 UR - https://www.unboundmedicine.com/medline/citation/27060254/Coenzyme_Q_biosynthesis_in_health_and_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0005-2728(16)30084-6 DB - PRIME DP - Unbound Medicine ER -