Mitochondrial genome mutations in 13 subunits of respiratory chain complexes in Chinese Han and Mongolian hypertensive individuals
Mitochondrial genome mutations in 13 subunits of respiratory chain complexes in Chinese Han and Mongolian hypertensive individuals
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DOI：
10.1080/24701394.2017.1407762
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发表时间：
2018-10
影响因子：
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通讯作者：
Ying Zhao;Xi Chen;Haide Li;Chao Zhu;Yang Li;Yuqi Liu
中科院分区：
文献类型：
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作者：
Ying Zhao;Xi Chen;Haide Li;Chao Zhu;Yang Li;Yuqi Liu
线粒体DNA （mtDNA）突变与包括高血压（HTN）在内的心血管疾病相关。本文对100例汉族和80例蒙古族HTN患者以及100例汉族和42例蒙古族正常血压患者的呼吸链复合体的13个mtdna编码亚基进行了遗传和分子分析。蒙古族正常血压组总胆固醇高于汉族正常血压组（p < 0.05）。序列分析在汉族和蒙古族高血压患者的13个mtdna编码亚基中发现636个点突变，其中NADH脱氢酶亚基1(ND1) 66个、ND2 62个、COI 71个、COII 29个、ATP8 17个、ATP6/8 1个、ATP6 49个、COIII 27个、ND3 27个、ND4L 14个、ND4 74个、ND5 97个、ND6 24个、CYTB 78个。其中8个点突变在汉族和蒙古族高血压个体中存在显著不同的频率。31个点突变只存在于蒙古族高血压人群中，73个点突变只存在于汉族高血压人群中。呼吸链复合物13个mtdna编码亚基点突变与HTN的关系值得进一步研究；然而，这些突变的功能影响需要阐明。
Abstract Mitochondrial DNA (mtDNA) mutations are associated with cardiovascular disease, including hypertension (HTN). Here we performed a genetic and molecular analysis of 13 mtDNA-encoded subunits of respiratory chain complexes in 100 Chinese Han and 80 Mongolian HTN cases, and 100 Han and 42 Mongolian normotension subjects. The total cholesterol of the Mongolian normotensive subjects was higher than that of the Han normotensive group (p < .05). Sequence analysis identified 636 point mutations in the 13 mtDNA-encoded subunits in the Han and Mongolian hypertensive individuals, including 66 in NADH dehydrogenase subunit 1(ND1), 62 in ND2, 71 in COI, 29 in COII, 17 in ATP8, one in ATP6/8, 49 in ATP6, 27 in COIII, 27 in ND3, 14 in ND4L, 74 in ND4, 97 in ND5, 24 in ND6, and 78 in CYTB. Eight of these point mutations were present at significantly different frequencies in Han and Mongolian hypertensive individuals. Thirty-one point mutations were present only in Mongolian hypertensive individuals, while 73 were present only in Han hypertensive individuals. The relation between point mutations in 13 mtDNA-encoded subunits of respiratory chain complexes and HTN is worth to further research in future; however, the functional effects of these mutations require elucidation.