Primary and secondary CoQ10 deficiencies in humans

被引：83
|
作者：
Quinzii, Catarina M. [1 ]
Hirano, Michio [1 ]
机构：
[1] Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA
来源：
BIOFACTORS | 2011年 / 37卷 / 05期
关键词：
coenzyme Q(10); respiratory chain activity; ROS; oxidative stress; COENZYME Q(10) DEFICIENCY; CEREBELLAR-ATAXIA; MITOCHONDRIAL ENCEPHALOMYOPATHY; UBIQUINONE DEFICIENCY; OXIDATIVE STRESS; MYOPATHIC FORM; LEIGH-SYNDROME; FOLLOW-UP; MUSCLE; MUTATIONS;
D O I：
10.1002/biof.155
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome 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 variably contribute to the pathogenesis of primary CoQ(10) deficiencies.
引用
收藏
页码：361 / 365
页数：5
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