Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification
Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification
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DOI：
10.1016/j.bbagen.2014.01.025
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发表时间：
2014-04-01
影响因子：
3
通讯作者：
Okazaki, Y.
中科院分区：
文献类型：
--
作者：
Ohtake, A.;Murayama, K.;Okazaki, Y.
线粒体疾病是先天性代谢疾病中发病率最高的疾病，其发病率被认为是每5000名新生儿中就有1例。在儿科领域被诊断为线粒体疾病的疾病中，约有25%具有线粒体DNA异常，而其余的则是由于细胞核中编码的基因缺陷而发生的。线粒体最重要的功能是ATP的生物合成。线粒体疾病几乎与线粒体呼吸链疾病同义，因为呼吸链复合物在ATP生物合成中起核心作用。通过下一代外显子组测序，我们分析了104例线粒体呼吸链疾病患者。迄今为止的分析结果是，18名患者具有先前报告为致病基因的新变异，27名患者具有基因突变，这些基因突变表明以某种方式与线粒体相关，并且它们很可能是线粒体疾病中的新致病基因。这篇文章是题为线粒体研究前沿的特刊的一部分。(C)2014作者Elsevier B.V.出版，保留所有权利。
Mitochondrial disorders have the highest incidence among congenital metabolic diseases, and are thought to occur at a rate of 1 in 5000 births. About 25% of the diseases diagnosed as mitochondrial disorders in the field of pediatrics have mitochondrial DNA abnormalities, while the rest occur due to defects in genes encoded in the nucleus. The most important function of the mitochondria is biosynthesis of ATP. Mitochondrial disorders are nearly synonymous with mitochondrial respiratory chain disorder, as respiratory chain complexes serve a central role in ATP biosynthesis. By next-generation sequencing of the exome, we analyzed 104 patients with mitochondrial respiratory chain disorders. The results of analysis to date were 18 patients with novel variants in genes previously reported to be disease-causing, and 27 patients with mutations in genes suggested to be associated in some way with mitochondria, and it is likely that they are new disease-causing genes in mitochondrial disorders. This article is part of a Special Issue entitled Frontiers of Mitochondrial Research. (C) 2014 The Authors. Published by Elsevier B.V. All rights reserved.