Mutations in coenzyme Q10 biosynthetic genes

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چکیده

منابع مشابه

Mutations in coenzyme Q10 biosynthetic genes.

Although it was first described in 1989, our understanding of coenzyme Q10 (CoQ10) deficiency is only now coming of age with the recent first description of the underlying molecular defects. The diverse clinical presentations, classifiable into four major syndromes, raise the question as to whether the deficiencies are primary or secondary. Recent studies, including the one by Mollet, Rötig, an...

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Coenzyme Q10.

Coenzyme Q10 is a vitamin-like substance used in the treatment of a variety of disorders primarily related to suboptimal cellular energy metabolism and oxidative injury. Studies supporting the efficacy of coenzyme Q10 appear most promising for neurodegenerative disorders such as Parkinson's disease and certain encephalomyopathies for which coenzyme Q10 has gained orphan drug status. Results in ...

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While some complementary and alternative techniques have been studied scientifically, high-quality data regarding safety, effectiveness, and mechanism of action are limited or controversial for most therapies. Whenever possible, it is recommended that practitioners be licensed by a recognized professional organization that adheres to clearly published standards. In addition, before starting a n...

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Coenzyme Q10

CoQ10 was discovered by Dr. Frederick L. Crane at the University of Wisconsin in the late 1950s during his research on the biochemistry of the mitochondrial electron transport chain, also known as the respiratory chain. The pure substance isolated from beef heart mitochondria was sent to Dr. Karl Folkers at the pharmaceutical company Merck for identification and elucidation of its structure. It...

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Coenzyme Q10 Monograph

Introduction Coenzyme Q10 (CoQ10) is a compound found naturally in virtually every cell in the human body. Because of its ubiquitous presence in nature and its quinone structure (similar to that of vitamin K), CoQ10 is also known as ubiquinone. CoQ10 is a fat-soluble substance whose primary role is as a vital intermediate of the electron transport system in the mitochondria. Adequate amounts of...

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ژورنال

عنوان ژورنال: Journal of Clinical Investigation

سال: 2007

ISSN: 0021-9738

DOI: 10.1172/jci31423