Mitochondria: Impaired mitochondrial translation in human disease
Mitochondria: Impaired mitochondrial translation in human disease
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DOI：
10.1016/j.biocel.2013.12.011
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发表时间：
2014-03-01
影响因子：
4
通讯作者：
Horvath, Rita
中科院分区：
文献类型：
--
作者：
Boczonadi, Veronika;Horvath, Rita
线粒体蛋白质合成的缺陷导致线粒体疾病的亚组，其通常与多种呼吸链（RC）酶的活性降低相关。这些疾病的临床表现通常是致残的、进行性的或致命的，影响大脑、肝脏、骨骼肌、心脏和其他器官。目前，这些疾病还没有有效的治疗方法，治疗充其量只是对症治疗。由于大量的核基因可能参与线粒体内蛋白质的合成，因此对患有多种呼吸链复合体缺陷的患者的诊断特别困难。这些基因中的许多尚未与人类疾病联系起来。全外显子组测序通过识别DNA中的主要缺陷，并防止对侵入性和复杂的生化检测的需要，迅速改变了这些患者的诊断。更好地了解线粒体蛋白质合成装置将有助于我们探索疾病机制，并为开发新的治疗方法提供线索。(C)2014作者由爱思唯尔有限公司出版。保留所有权利。
Defects of the mitochondrial protein synthesis cause a subgroup of mitochondrial diseases, which are usually associated with decreased activities of multiple respiratory chain (RC) enzymes. The clinical presentations of these disorders are often disabling, progressive or fatal, affecting the brain, liver, skeletal muscle, heart and other organs. Currently there are no effective cures for these disorders and treatment is at best symptomatic. The diagnosis in patients with multiple respiratory chain complex defects is particularly difficult because of the massive number of nuclear genes potentially involved in intra-mitochondrial protein synthesis. Many of these genes are not yet linked to human disease. Whole exome sequencing rapidly changed the diagnosis of these patients by identifying the primary defect in DNA, and preventing the need for invasive and complex biochemical testing. Better understanding of the mitochondrial protein synthesis apparatus will help us to explore disease mechanisms and will provide clues for developing novel therapies. (C) 2014 The Authors. Published by Elsevier Ltd. All rights reserved.