Brief Article
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World J Cardiol. May 26, 2013; 5(5): 132-140
Published online May 26, 2013. doi: 10.4330/wjc.v5.i5.132
Association of the level of heteroplasmy of the 15059G>A mutation in the MT-CYB mitochondrial gene with essential hypertension
Igor A Sobenin, Dimitry A Chistiakov, Margarita A Sazonova, Maria M Ivanova, Yuri V Bobryshev, Alexander N Orekhov, Anton Y Postnov
Igor A Sobenin, Margarita A Sazonova, Anton Y Postnov, Russian Cardiology Research and Production Complex, 121552 Moscow, Russia
Igor A Sobenin, Margarita A Sazonova, Maria M Ivanova, Yuri V Bobryshev, Alexander N Orekhov, Institute of General Pathology and Pathophysiology, Russian Academy of Medical Sciences, 125315 Moscow, Russia
Yuri V Bobryshev, Alexander N Orekhov, Institute for Atherosclerosis Research, Skolkovo Innovative Centre, 143025 Moscow, Russia
Dimitry A Chistiakov, Department of Medical Nanobiotechnology, Pirogov Russian State Medical University, 119992 Moscow, Russia
Yuri V Bobryshev, Faculty of Medicine, School of Medical Sciences, University of New South Wales, Sydney, NSW 2052, Australia
Author contributions: All authors participated in conception of the topic, literature search and analysis, writing of the manuscript, and approved the final version of the manuscript.
Supported by The Russian Ministry of Science and Education
Correspondence to: Yuri V Bobryshev, PhD, Faculty of Medicine, School of Medical Sciences, University of New South Wales, High St, Sydney, NSW 2052, Australia. y.bobryshev@unsw.edu.au
Telephone: +61-2-93851217 Fax: +61-2-93851217
Received: August 15, 2012
Revised: March 14, 2013
Accepted: March 28, 2013
Published online: May 26, 2013
Abstract

AIM: To examine whether the heteroplasmy level for 15059G>A mutation in the mitochondrial genome might be associated with essential hypertension.

METHODS: This cross-sectional study involved 196 unrelated participants randomly selected from general population (90 males and 106 females) who underwent a regular medical check-up at the Institute for Atherosclerosis Research (Moscow, Russia). One hundred and twenty of them (61%) had essential hypertension, and 76 (39%) were apparently healthy normotensive persons. The level of heteroplasmy for 15059G>A mutation occurring in the coding region of cytochrome b gene (MT-CYB) of mtDNA isolated from the blood leukocytes, was quantified using DNA pyrosequencing method.

RESULTS: The 15059G>A heteroplasmy level ranged between 4% and 83%, with a median level of 31%. Between the upper and lower quartiles of 15059G>A heteroplasmy distribution, significant differences were observed for patients’ age, systolic blood pressure, and triglyceride levels. 15059G>A heteroplasmy correlated both with age (r = 0.331, P < 0.001) and the presence of hypertension (r = 0.228, P = 0.002). Regression analysis revealed that the age explains 12% variability of 15059G>A heteroplasmy, and hypertension independently explains more 5% variability. The 15059G>A heteroplasmy exceeding 31% was found to be significantly associated with a higher risk of essential hypertension (odds ratio 2.76; P (Fisher) 0.019]. The study participants with high 15059G>A heteroplasmy level were found to have significantly higher age (P < 0.001) and the prevalence of essential hypertension (P = 0.033), as compared to those with low 15059G>A heteroplasmy level. These observations suggested a positive correlation between the level of 15059G>A heteroplasmy and essential hypertension.

CONCLUSION: This study provides the evidence of association of mtDNA 15059G>A mutation heteroplasmy with essential hypertension.

Keywords: Essential hypertension, Heteroplasmy, Mitochondrial DNA, 15059G>A mutation

Core tip: The pathophysiology of essential hypertension (EH) is insufficiently understood; in particular, the impact of mitochondrial DNA mutations on the development of EH is poorly investigated. We undertook this study in order to see whether the level of heteroplasmy for the 15059G>A mutation in the mitochondrial cytochrome b gene might be associated with EH. The 15059G>A heteroplasmy level in mtDNA in blood leukocytes obtained from 196 study participants, randomly selected from general population (120 of whom had EH), exceeding 31%, was found to be significantly associated with a higher risk of EH.