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Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNA(Trp) causing maternally inherited essential hypertension 期刊论文

编号：

034e0ae6-530a-467c-b991-8a7893d0d527
作者：

Guo, Li(郭立)#^[1,2]Yuan, Yong^[3];Bi, Rui*^[1]
语种：

英文
期刊：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS ISSN：0006-291X 2016 年 479 卷 4 期 (800 - 807) ; OCT 28
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关键词：

Essential hypertension mtDNA m.5512A &gt G tRNA(Trp) Chinese Dai population
摘要：

Essential hypertension (EH) is a common complex disorder with high heritability. Maternal inherited pattern was observed in some families with EH, which was known as maternally inherited essential hypertension (MIEH). Mitochondrial DNA (mtDNA) mutations were identified to account for some MIEH in previous studies. In the present study, we characterized clinical manifestations and the complete mitochondrial genome of a Chinese family with MIEH. Through analyzing the whole mtDNA genome of the proband, we identified a mutation m.5512A > G in the MT-TW gene that changed a highly conserved nucleotide and could potentially affect the function of tRNA(Trp). Furthermore, significantly exercise intolerance, left ventricular remodeling and increased arterial stiffness were observed in carriers with mutation m.5512A > G, which further supported the potentially pathogenic effect of m.5512A > G in MIEH. (C) 2016 Elsevier Inc. All rights reserved.
推荐引用方式
GB/T 7714：

Guo Li,Yuan Yong,Bi Rui, et al. Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNA(Trp) causing maternally inherited essential hypertension [J].BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2016,479(4):800-807.
APA：

Guo Li,Yuan Yong,Bi Rui.(2016).Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNA(Trp) causing maternally inherited essential hypertension .BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,479(4):800-807.
MLA：

Guo Li, et al. "Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNA(Trp) causing maternally inherited essential hypertension" .BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 479,4(2016):800-807.
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