Li Zong-Bin, Liu Yu-Qi, Li Yan-Hua, Chen Rui, Wang Lin, Zhu Qing-Lei, Li Yang, Wang Shi-Wen
Institute of Geriatric Cardiology, General Hospital of Chinese PLA, Beijing 100853, China.
Yi Chuan. 2011 Jun;33(6):601-6. doi: 10.3724/sp.j.1005.2011.00601.
The objective of the present study was to explore the relationship between mitochondrial tRNAMet mutation and development of essential hypertension in Chinese Han individuals. A total of 990 patients with essential hypertension were involved. The general data (sex, age, body mass index, onset age, and family history) and information on routine blood test, blood biochemical examination, and color Doppler echocardiography of these patients were collected. All subjects under-went venous blood drawing for seperating white blood cells and DNA extraction. Then, mitochondrial tRNAMet was amplified and sequenced after purification. The patients who carried the tRNAMet mutation were taken as the indicative cases and the controls were the patients with essential hypertension who did not carry the mutation. We performed a comparative analysis on the routine blood test, blood biochemical examination, color Doppler echocardiography, and other data between the indicative cases and control cases. Among the 990 essential hypertensive patients, there were 8 who carried the tRNAMet mutation, and 6 mutation sites were confirmed, including A4401G, C4410A, U4418C, A4435G, U4454C, and C4456U. Compared with the control cases, the indicative cases developed essential hypertension at earlier ages. The average levels of high density of lipoprotein cholesterol, left ventricular end diastolic diameter, stroke volume, and cardiac index were higher in the indicative cases than in the controls. While the average levels of hemoglobin and left ventricular ejection fraction were lower in the indicative cases than in the control cases. Among the 8 indicative cases, 5 had maternally inherited hyper-tension; one had paternally inherited hypertension; and two denied any family history of hypertension. These results indicated that the mitochondrial tRNAMet mutations might induce the changes in structure and function, which was involved in the progress of the essential hypertension by disturbing the blood metabolism, the steady-state of the blood cells, and the cardiac structure and function.
本研究的目的是探讨中国汉族个体中线粒体tRNAMet突变与原发性高血压发生发展之间的关系。共纳入990例原发性高血压患者。收集了这些患者的一般资料（性别、年龄、体重指数、发病年龄和家族史）以及血常规、血液生化检查和彩色多普勒超声心动图的相关信息。所有受试者均进行静脉采血以分离白细胞并提取DNA。然后，对线粒体tRNAMet进行扩增、纯化后测序。携带tRNAMet突变的患者作为指示病例，对照组为不携带该突变的原发性高血压患者。我们对指示病例和对照病例的血常规、血液生化检查、彩色多普勒超声心动图及其他数据进行了比较分析。在990例原发性高血压患者中，有8例携带tRNAMet突变，共确认了6个突变位点，包括A4401G、C4410A、U4418C、A4435G、U4454C和C4456U。与对照病例相比，指示病例原发性高血压的发病年龄更早。指示病例的高密度脂蛋白胆固醇、左心室舒张末期内径（LVEDD）、每搏输出量（SV）和心脏指数（CI）的平均水平高于对照组。而指示病例的血红蛋白和左心室射血分数（LVEF）的平均水平低于对照组。在8例指示病例中，5例有母系遗传的高血压；1例有父系遗传的高血压；2例否认有任何高血压家族史。这些结果表明，线粒体tRNAMet突变可能导致结构和功能的改变，通过干扰血液代谢、血细胞稳态以及心脏结构和功能，参与原发性高血压的进展。
