Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNATrp causing maternally inherited essential hypertension
文献类型：期刊论文
| 作者 | Guo L1,2; Yuan Y3; Bi R[*]1 |
| 刊名 | Biochemical and Biophysical Research Communications
 |
| 出版日期 | 2016 |
| 卷号 | 479期号:X页码:800-807 |
| 关键词 | Chinese Dai population Essential hypertension m.5512A > G mtDNA tRNA(Trp) |
| 通讯作者 | birui@mail.kiz.ac.cn |
| 合作状况 | 其它 |
| 英文摘要 | 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 tRNATrp. 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. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by National Natural Science Foundation of China (81360023) and Yunnan Applied Basic Research Projects Joint Special Project (2012Z091). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10571]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China 2.Department of Radiology, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650101, China 3.Department of Emergency, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650101, China |
| 推荐引用方式 GB/T 7714 | Guo L,Yuan Y,Bi R[*]. Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNATrp causing maternally inherited essential hypertension[J]. Biochemical and Biophysical Research Communications,2016,479(X):800-807. |
| APA | Guo L,Yuan Y,&Bi R[*].(2016).Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNATrp causing maternally inherited essential hypertension.Biochemical and Biophysical Research Communications,479(X),800-807. |
| MLA | Guo L,et al."Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNATrp causing maternally inherited essential hypertension".Biochemical and Biophysical Research Communications 479.X(2016):800-807. |
入库方式： OAI收割
来源：昆明动物研究所
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