Lu Yan, Xiao Tiehui, Zhang Feng, Chen Yanming, Liu Yuqi, Li Yang, Chen Yun Dai, Li Zongbin, Guan Minxin
Department of Geriatric Comprehensive Surgery, Chinese PLA General Hospital, Beijing 100853, China.
Department of Geriatric Cardiology, Chinese PLA General Hospital, Beijing 100853, China.
Biochem Biophys Res Commun. 2014 Nov 28;454(4):500-4. doi: 10.1016/j.bbrc.2014.10.089. Epub 2014 Oct 29.
Mitochondrial dysfunction has been potentially implicated in both human and experimental hypertension. We performed the mutational analysis of tRNA(Lys) gene by PCR amplification and subsequent sequence analysis of the PCR fragments from 990 Chinese essential hypertensive subjects. We also made a comparative analysis of the collected data of the essential hypertension subjects who carried tRNA(Lys) mutation and those who did not carry the mutation using the methods of 1:1 case-control study. We totally found 7 mutation sites in 10 subjects. The onset ages of the individuals carrying the mutation were earlier than those who did not bear them. The level of blood urea nitrogen in hypertension subjects who carried tRNA(Lys) mutation was higher than the hypertension subjects who did not carried tRNA(Lys) mutation, while the serum potassium was significantly lower. The level of platelet count in hypertension subjects who carried tRNA(Lys) mutation was lower. The level of ventricular septal thickness in hypertension subjects who carried tRNA(Lys) mutation was higher and the level of left ventricular end diastolic diameter in hypertension subjects was significantly lower. Mitochondrial tRNA(Lys) mutations might result in the change of their structure and function, and then damaged the blood metabolism, the balance of the blood electrolyte, the steady-state of the blood cells and the heart structure and function, which were involved in the progress of the essential hypertension. Part of the essential hypertension patients clinically presented the characters of maternal inheritance, which might be associated with the tRNA(Lys) mutation.
线粒体功能障碍可能与人类高血压及实验性高血压均有关联。我们通过聚合酶链反应（PCR）扩增及随后对990名中国原发性高血压患者的PCR片段进行序列分析，对tRNA（Lys）基因进行了突变分析。我们还采用1:1病例对照研究方法，对携带tRNA（Lys）突变的原发性高血压患者和未携带该突变的患者所收集的数据进行了比较分析。我们在10名受试者中总共发现了7个突变位点。携带突变的个体发病年龄早于未携带突变的个体。携带tRNA（Lys）突变的高血压患者血尿素氮水平高于未携带tRNA（Lys）突变的高血压患者，而血清钾水平显著较低。携带tRNA（Lys）突变的高血压患者血小板计数水平较低。携带tRNA（Lys）突变的高血压患者室间隔厚度水平较高，而高血压患者左心室舒张末期内径水平显著较低。线粒体tRNA（Lys）突变可能导致其结构和功能改变，进而损害血液代谢、血液电解质平衡、血细胞稳态以及心脏结构和功能，这些均参与原发性高血压的进展。部分原发性高血压患者临床上呈现母系遗传特征，这可能与tRNA（Lys）突变有关。
