| Coenzyme Q and mitochondrial disease. | |
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MedLine Citation:
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PMID: 20818733 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Coenzyme Q(10) (CoQ(10)) is an essential electron carrier in the mitochondrial respiratory chain and an important antioxidant. Deficiency of CoQ(10) is a clinically and molecularly heterogeneous syndrome, which, to date, has been found to be autosomal recessive in inheritance and generally responsive to CoQ(10) supplementation. CoQ(10) deficiency has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (primary CoQ(10) deficiencies) or in genes not directly related to CoQ(10) biosynthesis (secondary CoQ(10) deficiencies). Respiratory chain defects, ROS production, and apoptosis contribute to the pathogenesis of primary CoQ(10) deficiencies. In vitro and in vivo studies are necessary to further understand the pathogenesis of the disease and to develop more effective therapies. |
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Authors:
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Catarina M Quinzii; Michio Hirano |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Developmental disabilities research reviews Volume: 16 ISSN: 1940-5529 ISO Abbreviation: Dev Disabil Res Rev Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-09-06 Completed Date: 2011-01-14 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 101319448 Medline TA: Dev Disabil Res Rev Country: United States |
Other Details:
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Languages: eng Pagination: 183-8 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Atrophy Cerebellum / pathology Child Chromosome Aberrations DNA Mutational Analysis Developmental Disabilities / diagnosis, genetics*, therapy Disease Progression Genes, Recessive Humans Infant, Newborn Kidney Diseases / diagnosis, genetics, therapy Kidney Glomerulus Mitochondrial Diseases / diagnosis, genetics*, therapy Mitochondrial Encephalomyopathies / diagnosis, genetics, therapy Mitochondrial Myopathies / diagnosis, genetics, therapy Spinocerebellar Degenerations / diagnosis, genetics, therapy Ubiquinone / analogs & derivatives*, deficiency, genetics |
| Grant Support | |
ID/Acronym/Agency:
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HD32062/HD/NICHD NIH HHS; K23 HD065871-01/HD/NICHD NIH HHS; NS11786/NS/NINDS NIH HHS; R01 HD057543-04/HD/NICHD NIH HHS; R01 HD057543-04W1/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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1339-63-5/Ubiquinone; 303-98-0/coenzyme Q10 |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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