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F. H. Wilson, A. Hariri, A. Farhi, et al. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science, 2004, 306(5699): 1190-1194.

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  • 标题: 线粒体DNA突变与高血压Mutations in Mitochondrial DNA and Hypertension

    作者: 秦文蓓, 张富春, 郑秀芬

    关键字: 高血压, 线粒体DNA, 突变, 母系遗传Hypertension; Mitochondrial DNA; Mutation; Maternal Inheritance

    期刊名称: 《Advances in Clinical Medicine》, Vol.2 No.1, 2012-03-19

    摘要: 高血压是当今社会最常见的心血管疾病,是导致死亡的主要危险因素之一。线粒体DNA的突变会导致线粒体代谢缺陷,影响蛋白质合成,氧化磷酸化功能受损,减少ATP的合成,增加了活性氧的产生。因此,线粒体DNA突变是线粒体疾病的研究热点之一。高血压相关的线粒体DNA突变的深入研究有助于进一步理解母系遗传高血压的分子致病机制,为高血压的控制和治疗提供理论依据。文章对高血压相关的线粒体DNA突变进行了综述。Hypertension is one of the most common cardiovascular disease. It is one of the main risk factors associated with cardiovascular death. Mutations in mitochondrial DNA lead to failures in metabolism, affecting mitochondrial protein synthesis and oxidative phosphorylation function. These mutations result in a deficit in ATP synthesis and an increase of generation of reactive oxygen species. As a result, mitochondrial DNA mutation has been the highlight in this filed. These findings will be helpful for understanding the molecular mechanism of maternally inherited hypertension. It may provide new insights into management and treatment of maternally inherited hypertension. This review summarized the association between mtDNA mutations and hypertension.