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Sobenin IA, Chistiakov DA, Sazonova MA, Ivanova MM, Bobryshev YV, Orekhov AN, Postnov AY.
World J Cardiol. 2013 May 26;5(5):132-40. doi: 10.4330/wjc.v5.i5.132.


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.