Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
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线粒体呼吸链疾病和核 DNA 突变：一个有希望的开始？
DOI：
10.1111/j.1750-3639.2000.tb00276.x
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发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Schon,EA
中科院分区：
文献类型：
--
作者：
Sue,CM;Schon,EA
十多年来，对人类疾病中由呼吸链功能障碍引起的致病突变的研究一直集中在线粒体基因组上。目前已经发现了100多个影响tRNA基因和指定呼吸链复合物亚基的基因的突变（11,36）。在过去的几年里，关注的焦点已经转移到寻找核基因组（nDNA）内的突变，包括编码呼吸链结构亚基的基因，这些亚基组装所需的基因，以及参与基因组间信号传导的基因。我们将集中在已知的影响呼吸链特定复合物的核突变及其组装。Hirano和Vu在综述中讨论了涉及基因组间信号传导的疾病。
For more than a decade, the search for pathogenic mutations in human diseases due to respiratory chain dysfunction has been focused on the mitochondrial genome. Over 100 mutations affecting both tRNA genes and genes specifying subunits of respiratory chain complexes have now been found (11, 36). In the past few years, the focus of attention has shifted to the search for mutations within the nuclear genome (nDNA), including genes that encode structural subunits of the respiratory chain, genes that are needed for the assembly of these subunits, and genes that are involved in intergenomic signalling. We will focus here on known nuclear mutations affecting specific complexes of the respiratory chain, and their assembly. Disorders involving intergenomic signalling are discussed in the review by Hirano and Vu.