首页>>文献首页>>文献正文

ScienceDirect.com - Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Presence of mutation m.14484T>C in a Chinese family with maternally inherited essential hypertension but no expression of LHON

科学网互动 添加于 2012/7/9 10:49:10  1200次阅读 | 0次推荐 | 0个评论

Essential hypertension (EH, MIM 145500) is the most common cardiovascular disease and affects one-quarter of the world's adult population. Families with EH in a mode of maternal transmission have been occasionally observed in clinical settings and suggested an involvement of mitochondrial DNA (mtDNA) mutation. We aimed to characterize the role of mtDNA mutation in EH. We reported a large Han Chinese family with a maternally inherited EH and an extraordinarily high percentage of sudden death mainly in affected females. Analysis of the entire mtDNA genome of the proband identified a homoplasmic primary mutation m.14484T>C for Leber's hereditary optic neuropathy (LHON), along with several variants indicating haplogroup F1 status. Intriguingly, no maternal member in this family had LHON though they all harbored m.14484T>C. The arterial stiffness of the members carrying mutation m.14484T>C was significantly increased than that of non-maternal members without this mutation. No environmental factor (including age, sex, smoking, diabetes, hyperlipidemia) was correlated with the decreased aortic elastic properties observed in affected members. Mitochondrial respiration rate and membrane potential (ΔΨm) were significantly reduced in lymphoblastoid cell lines established from affected members carrying m.14484T>C when compared to control cell lines (P < 0.05). There was an elevation of reactive oxygen species and a compensatory increase of mitochondrial mass in mutant cell lines. Our results suggest that m.14484T>C causes EH under certain circumstance. This study provides a paradigm for diverse phenotypes of the primary LHON mutation and suggests for the necessity of routine cardiac evaluation in patients with the primary LHON mutation.

作 者:Hao Guoa, b, 1, Xin-Ying Zhuanga, 1, A-Mei Zhanga, Wen Zhanga, c, Yong Yuand, Li Guod, Dan-Dan Yua, Juan Liud, Da-Kuan Yangd, Yong-Gang Yaoa, ,
期刊名称:
期卷页: 第卷 第期 页
学科领域:医学科学 » 循环系统 » 血压调节异常与高血压病
添加人是否为作者:
原文链接:http://www.sciencedirect.com/science/article/pii/S0925443912001445
DOI: 10.1016/j.bbadis.2012.06.010
ISBN:
关键词:
相关报道: http://paper.sciencenet.cn/htmlpaper/20127911165185225095.shtm
备 注:
文献笔记

   
导出选项:

评论 (0 个评论)

Page 1 of 1
<<<[1]>>>

举报 | Archiver | 科学网( 京ICP备07017567 )

GMT+8, 2011-2-15 11:31

Powered by ScienceNet.cn

Copyright © 2007- 科学时报社