Heteroplasmy A1555G mutations of the mitochondrial genome in homogenates of the atherosclerotic aortic intima

Abstract

Objective: This research is a pilot study and its purpose was to study the association of atherosclerosis and somatic mutation A1555G.
Materials and methods. As a material for the study total aortic intima tissues of people, who died as a result of an accident or a sudden death were used. Normal and atherosclerotic aortic intima sections were homogenized, well mixed and 10 μg of the tissue were taken for DNA extraction. 10 aortas were taken for the investigation. After PCR the amplificates were pyrosequenced to identify the percent of heteroplasmy.
Results and discussion: In the present paper the heteroplasmy of mitochondrial gene 12S rRNA in DNA samples isolated from total homogenates of normal and atherosclerotic aortic intima was studied. It was found out that the heteroplasmy level of A1555G mutant allele in the samples with atherosclerotic lesions is significantly higher
compared to homogenates of normal intima.
Conclusion. On the basis of the received data, it can be concluded that somatic mitochondrial mutation A1555G (12S rRNA gene) is associated with atherosclerosis.