MITOCHONDRIAL DNA POLYMORPHISM AND PATHOGENETICS OF SUDDEN CARDIAC DEATH (review)
Sergey Alexandrovich AFANASYEV1, Mariya Vladimirovna GOLUBENKO2, Lyudmila Petrovna TSAPKO1, Valery Pavlovich PUZYREV2
1Cardiology Research Institute, Tomsk National Research Medical Center of SB RAS
2Research Institute of Medical Genetics, Tomsk National Research Medical Center of SB RAS
Keywords: митохондриальная ДНК, полиморфизм, внезапная сердечная смерть, митохондрии, окислительный стресс, mitochondrial DNA, polymorphism, sudden cardiac death, mitochondria, oxidative stress
Abstract
Study of the causes and mechanisms leading to sudden death is one of the most important goals in cardiology. Multiple studies suggest substantial role of mitochondrial dysfunction in the sudden death pathogenesis. Lack of ATP, excess of reactive oxygen species, and disruption of ionic balance in mitochondria are all able to provoke life-threatening arrhythmia. Mitochondrial DNA, which encodes several subunits of mitochondrial respiratory chain, is characterized by considerably high variability in human populations. It has been shown that cell respiration can depend on common mtDNA polymorphisms. In addition, there are data on associations of mtDNA polymorphisms with predisposition to cardiovascular diseases, including those associated with high risk of sudden death. The differences in cell bioenergetics between mtDNA genotypes do not influence myocardial function in normal state but may appear to be critical under acute ischemic conditions. So, mitochondrial genome should be considered as one of main components in the pathogenetics of sudden cardiac death.
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