Accepted_test

Mitochondrial DNA variants combinations as a risk factor for developing of arrhythmia
by Golubenko M. | Korepanov V. | Babushkina N. | Vasilyeva O. | Valiakhmetov N. | Zarubin A. | Atabekov T. | Vitt K. | Afanasiev S. | Nazarenko M. | Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia | Cardiology Research Institute, Tomsk NRMC, Tomsk, Russia | Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia | Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia | Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia | Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia | Cardiology Research Institute, Tomsk NRMC, Tomsk, Russia | Cardiology Research Institute, Tomsk NRMC, Tomsk, Russia | Cardiology Research Institute, Tomsk NRMC, Tomsk, Russia | Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia
Abstract ID: 630
Event: BGRS-abstracts
Sections: Section “Genetics and systems biology of aging”

Mitochondria may contribute into physiological dysregulation that develop with age and lead to an increased risk of arrhythmia. Taking into account that human mtDNA is characterized by a high mutation rate and extensive population polymorphism, it should be expected that “normal” mtDNA variants or their combinations may be associated with mitochondrial function. The purpose of the study is to search for mtDNA variants and/or their combinations that influence the risk of developing life-threatening arrhythmias. The complete sequence of mtDNA was studied in a sample of patients with cardiac arrhythmias and implanted  implantation of a cardioverter-defibrillator, and in a control group of individuals without  cardiovascular symptoms. Fmino acid substitutions were registered in the mitochondrial genes of the subunits of the respiratory chain complexes, depending on the complex (I, III, IV, V), as well as substitutions in the 12S, 16S rRNA and tRNA genes. Common mtDNA haplogroups frequencies did not deffer between the  samples. However, comparison of the amino acid substitutions in different respiratory complexes subunits  on one haplotype showed the predominance of such “multiple” substitutions in patients with cardiac arrhythmias. Statistically significant were the differences in the proportion of patients with amino acid substitutions in two or three complexes of the respiratory chain, as well as when comparing the proportion of patients with substitutions simultaneously in 12S rRNA and 16S rRNA. Thus, the “variation load” in mitochondrial genes for different respiratory chain complexes, as well as in both ribosomal RNA genes, may be risk factor for the life-threatening arrhythmias in patients.