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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Zordan, Roberta Desbats, Maria Andrea Cerqua, Cristina Vazquez Fonseca, Luis Trevisson, Eva Salviati, Leonardo Acosta, Manuel Jesús |
| Description | Author Affiliation: Acosta MJ ( Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.); Vazquez Fonseca L ( Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.); Desbats MA ( Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.); Cerqua C ( Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.); Zordan R ( Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, and IRP Città della Speranza, Padova, Italy.); Trevisson E ( 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.); Salviati L ( 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.) |
| 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. |
| ISSN | 00063002 |
| Journal | Biochimica et Biophysica Acta (BBA) - Reviews on Cancer |
| Issue Number | 8 |
| Volume Number | 1857 |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2016-08-01 |
| Publisher Place | Netherlands |
| Access Restriction | Open |
| Subject Keyword | Ataxia Metabolism Electron Transport Chain Complex Proteins Mitochondria Mitochondrial Diseases Muscle Weakness Ubiquinone Biosynthesis Deficiency Adenosine Triphosphate Agonists Animals Drug Therapy Genetics Physiopathology Electron Transport Mutation Protein Multimerization Reactive Oxygen Species Antagonists & Inhibitors Saccharomyces Cerevisiae Therapeutic Use Research Support, Non-U.S. Gov't Biochemistry |
| Content Type | Text |
| Resource Type | Article |
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