Mitochondrial DNA medicine
Mitochondrial DNA medicine
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DOI：
10.1007/s10540-007-9032-5
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发表时间：
2007-06-01
影响因子：
4
通讯作者：
DiMauro, Salvatore
中科院分区：
文献类型：
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作者：
DiMauro, Salvatore
小的母系遗传的线粒体DNA（mtDNA）已被证明是致病突变的温床：进入“线粒体医学”时代15年来，超过150个致病点突变和无数重排与各种多系统或组织特异性人类疾病有关。MtDNA相关疾病可分为两大类：由于影响线粒体蛋白质合成的基因突变引起的疾病和由于特定蛋白质编码基因突变引起的疾病。本文就线粒体遗传学及线粒体DNA相关疾病的临床特点作一综述。
The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a hotbed of pathogenic mutations: 15 years into the era of 'mitochondrial medicine', over 150 pathogenic point mutations and countless rearrangements have been associated with a variety of multisystemic or tissue-specific human diseases. MtDNA-related disorders can be divided into two major groups: those due to mutations in genes affecting mitochondrial protein synthesis in toto and those due to mutations in specific protein-coding genes. Here we review the mitochondrial genetics and the clinical features of the mtDNA-related diseases.