Ассоциация гетероплазмии мутаций митохондриального генома с ишемической болезнью сердца

Purpose of the study. Improvement of the risk assessment algorithm, and genetic diagnosis of predisposition to the development of atherosclerosis and cardiovascular diseases. Methods. To assess the diagnostic significance of the degree of mitochondrial heteroplasmy, the determination of this index was performed in 100 healthy individuals and 325 patients with CHD, including 225 CHD patients - myocardial infarction survivors. The real-time polymerase chain reaction (RT-PCR) method was used to analyze 9 mutations of the mitochondrial genome, which correlated with the extent of carotid atherosclerosis. Results. Mathematical model for determining the genetic risk of coronary heart disease was developed based on the calculation of total mutational load of the mitochondrial genome by mtDNA variants m.12315G>A in MT-TL2 gene, m.15059G>A in MT-CYB gene, m.3256C>T in MT-TL1 gene, and m.13513G>A in MT-ND5 gene. This model explained not less than 60% of the variability of clinical manifestations of atherosclerosis, and was not dependent on other cardiovascular risk factors. Conclusion. Based on the analysis of the total mutational load of the mitochondrial genome, the method for assessing the genetic risk of the development of CHD and myocardial infarction was developed.