Coenzyme Q biosynthesis in health and disease
| Autor: | Eva Trevisson, Manuel Jesús Acosta, Cristina Cerqua, Leonardo Salviati, Maria Andrea Desbats, Luis Vazquez Fonseca, Roberta Zordan |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Mitochondrial Diseases Ubiquinone Mitochondrial disease Respiratory chain Biophysics Saccharomyces cerevisiae Biology Mitochondrion Biochemistry Cofactor Electron Transport 03 medical and health sciences Adenosine Triphosphate medicine COQ7 Animals Humans Coenzyme Q Coenzyme Q10 deficiency Mitochondrial disorders Steroid resistant nephrotic syndrome Cell Biology Muscle Weakness food and beverages medicine.disease Mitochondria 030104 developmental biology Electron Transport Chain Complex Proteins Coenzyme Q – cytochrome c reductase Mutation biology.protein Ataxia Protein Multimerization Reactive Oxygen Species ADCK3 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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