Mitochondrial genome mutations in 13 subunits of respiratory chain complexes in Chinese Han and Mongolian hypertensive individuals

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 (<i>p</i> &lt; .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.

线粒体DNA（mtDNA）突变与包括高血压（HTN）在内的心血管疾病密切相关。本研究对100例中国汉族、80例蒙古族高血压患者，以及100例汉族、42例蒙古族血压正常受试者的13个呼吸链复合物线粒体DNA编码亚基开展了遗传与分子分析。蒙古族血压正常受试者的总胆固醇水平显著高于汉族血压正常组（*p* < 0.05）。序列分析在汉族与蒙古族高血压患者的13个线粒体DNA编码亚基中共检出636个点突变，其中66个位于NADH脱氢酶亚基1（ND1）、62个位于ND2、71个位于COI、29个位于COII、17个位于ATP8、1个位于ATP6/8、49个位于ATP6、27个位于COIII、27个位于ND3、14个位于ND4L、74个位于ND4、97个位于ND5、24个位于ND6、78个位于CYTB。其中8个点突变在汉族与蒙古族高血压患者中的出现频率存在显著差异。31个点突变仅在蒙古族高血压患者中检出，另有73个点突变仅见于汉族高血压患者。呼吸链复合物13个线粒体DNA编码亚基的点突变与高血压之间的关联值得后续深入研究，而上述突变的功能效应仍有待阐明。