The Association between the C5263T Mutation in the Mitochondrial ND2 Gene and Coronary Heart Disease among Young Chinese Han People.
The Association between the C5263T Mutation in the Mitochondrial ND2 Gene and Coronary Heart Disease among Young Chinese Han People.
复制标题
中国汉族青年线粒体ND2基因C5263T突变与冠心病的关系。
DOI：
10.3967/bes2017.037
复制
发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Hai
中科院分区：
文献类型：
--
作者：
Guoxin Han;Lei Xia;Shuoshuo Li;Q. Jin;Yang;Hong;Li Wang;Lingmeng Kong;T. Li;Hai
目的
本研究旨在探讨青年冠心病患者线粒体基因的遗传背景，为青年冠心病的早期预防提供依据。
方法
选择2014年1月至2015年12月在解放军总医院住院的汉族青年（≤ 45岁）冠心病患者115例（病例组）、汉族老年（> 45岁）冠心病患者100例（实验组）和健康体检者100例（对照组）。进行一般信息、临床评估、家系分析和线粒体全序列扫描。招募了一名携带C5263T突变的患者的家系。对C5263T突变家系（突变组）和非突变家系（非突变组）进行线粒体功能分析，包括细胞活性氧（ROS）水平和线粒体膜电位（MMP）。
结果
实验组与病例组生化指标比较差异无统计学意义（P > 0.05）。病例组中2例青年冠心病患者存在线粒体ND2基因C5263T单核苷酸突变。这2例患者的早发冠心病遵循母系遗传模式。突变组（I1，II2）的ROS水平（4750.82 ± 1045.55 vs. 3888.58 ± 487.60，P = 0.022）高于非突变组（II1，III1，III2），MMP水平（P = 0.045）低于非突变组（II1，III1，III2）。
结论
推测线粒体C5263T突变可能与中国汉族青年冠心病的发生有关。
OBJECTIVE
This study aimed to investigate the genetic background of mitochondrial genes in young patients with Coronary heart disease (CHD) to provide a foundation for the early prevention of young patients with CHD.
METHODS
115 cases of young (⋜ 45 years) CHD Chinese Han patients (case group), 100 cases of older (> 45 years) Chinese Han CHD patients (experimental group) hospitalized and 100 cases of healthy people through physical examination (control group) at the General Hospital of PLA between January 2014 and December 2015 were selected. General information, clinical assessment, pedigree analysis, and mitochondrial full sequence scanning were performed. The pedigrees of one patient harbouring the C5263T mutation were recruited. Mitochondrial functional analysis including cellular reactive oxygen species (ROS) levels and mitochondrial membrane potential (MMP) were performed on pedigrees with the C5263T mutation (mutation group) and without the mutation (non-mutation group).
RESULTS
The differences in biochemical tests (P > 0.05) between the case group and experimental group were not significant. The C5263T single-nucleotide mutation of the mitochondrial ND2 gene was observed in 2 young CHD patients in the case group. The premature CHD of these 2 patients followed a pattern of maternal inheritance. The mutation group (I1, II2) had higher ROS levels (4750.82 ± 1045.55 vs. 3888.58 ± 487.60, P = 0.022) and lower MMP levels (P = 0.045) than the non-mutation group (II1, III1, III2).
CONCLUSION
We speculated that the mitochondrial C5263T mutation might be associated with the occurrence CHD in Chinese Han young people.
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影响因子：
20.1
作者：
Ohanyan V;Yin L;Bardakjian R;Kolz C;Enrick M;Hakobyan T;Kmetz J;Bratz I;Luli J;Nagane M;Khan N;Hou H;Kuppusamy P;Graham J;Fu FK;Janota D;Oyewumi MO;Logan S;Lindner JR;Chilian WM
通讯作者：
Chilian WM
影响因子：
4.3
作者：
Gadicherla, Ashish K.;Stowe, David F.;Antholine, William E.;Yang, Meiying;Camara, Amadou K. S.
通讯作者：
Camara, Amadou K. S.
影响因子：
13.5
作者：
Akar, Fadi G.;O'Rourke, Brian
通讯作者：
O'Rourke, Brian
DOI：
10.1152/ajpheart.00731.2011
发表时间：
2012-04-01
影响因子：
4.8
作者：
Lee, Hsin-Ling;Chen, Chwen-Lih;Chen, Yeong-Renn
通讯作者：
Chen, Yeong-Renn