Mitochondrial tRNAThr 15909A>G mutation associated with hypertension in a Chinese Han pedigree
Mitochondrial tRNAThr 15909A>G mutation associated with hypertension in a Chinese Han pedigree
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中国汉族家系线粒体 tRNA(Thr) 15909A > G 突变与高血压相关
DOI：
10.1016/j.bbrc.2017.11.061
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发表时间：
2018-01-01
影响因子：
3.1
通讯作者：
Xue, Ling
中科院分区：
文献类型：
--
作者：
Li, Haiying;Geng, Junwei;Xue, Ling
线粒体DNA突变是高血压的分子遗传基础之一。我们对一个母系遗传性高血压家系进行了临床、遗传、突变、分子特征和生化分析。鉴定了tRNAThr中的m.15909A > G变体。该突变破坏了tRNAThr D-茎中高度保守的碱基配对（11 U-24 A），并影响了线粒体tRNAThr的结构和功能。结果，线粒体翻译产物的总体水平降低。线粒体蛋白质合成减少导致复合物活性降低，ATP生成减少，ROS生成增加。m.15909A > G突变可能是导致该家系高血压发生的遗传因素。(C)2017爱思唯尔公司All rights reserved.
Mitochondrial DNA mutations are one of the molecular genetic bases of hypertension. Here, we performed clinical, genetic and mutational evaluation, molecular characterization as well as biochemical analysis of a Chinese Han family with maternally inherited hypertension. The m.15909A > G variant in tRNAThr was identified. This mutation abolished a highly conserved base pairing (11U-24A) in the D-stem of tRNAThr and affected the structure and function of mitochondrial tRNAThr. As a result, the overall levels of mitochondrial translation products was decreased. The reduced mitochondrial protein synthesis resulted in the decrease in the activity of complex, and in turn, the production of ATP decreased and the generation of ROS increased. The m.15909A > G mutation maybe an inherited factor leading to the development of hypertension in this Chinese Han pedigree. (C) 2017 Elsevier Inc. All rights reserved.