关键词: 基因突变, 原发性高血压, 母系遗传, 中国汉族人, 线粒体tRNA^Met

Abstract: The objective of the present study was to explore the relationship between mitochondrial tRNA^Met 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 underwent venous blood drawing for seperating white blood cells and DNA extraction. Then, mitochondrial tRNA^Met was amplified and sequenced after purification. The patients who carried the tRNA^Met mutation were taken as the indicative cases and the controls were the patients with essential hyper-tension 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 tRNA^Met 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 cho-lesterol, 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 hypertension; one had paternally inher-ited hypertension; and two denied any family history of hypertension. These results indicated that the mitochondrial tRNA^Met 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 struc-ture and function.

Key words: mitochondrial tRNA^Met, gene mutation, essential hypertension, maternally inherition, Chinese Han indi-viduals