Diodato Daria, Ghezzi Daniele, Tiranti Valeria
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta", Via Temolo 4, 20126 Milan, Italy.
Int J Cell Biol. 2014;2014:787956. doi: 10.1155/2014/787956. Epub 2014 Feb 4.
Mitochondrial respiratory chain (RC) disorders are a group of genetically and clinically heterogeneous diseases. This is because protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis and maintenance of mitochondria, including mitochondrial DNA (mtDNA) replication, transcription, and translation, require nuclear-encoded genes. In the past decade, a growing number of syndromes associated with dysfunction of mtDNA translation have been reported. This paper reviews the current knowledge of mutations affecting mitochondrial aminoacyl tRNAs synthetases and their role in the pathogenic mechanisms underlying the different clinical presentations.
线粒体呼吸链（RC）疾病是一组遗传和临床异质性疾病。这是因为呼吸链的蛋白质成分由线粒体和核基因组共同编码，并且在所有细胞中都至关重要。此外，线粒体的生物发生和维持，包括线粒体DNA（mtDNA）复制、转录和翻译，都需要核编码基因。在过去十年中，越来越多与mtDNA翻译功能障碍相关的综合征被报道。本文综述了影响线粒体氨酰tRNA合成酶的突变的现有知识及其在不同临床表现的致病机制中的作用。
