Analysis of mitochondrial gene G12315A heteroplasmy mutations in homogenates of lesions of the human aortic intima

Abstract

Aim. To assess the level of heteroplasmy in the mutant allele G12315A in DNA samples obtained from total homogenates of normal and atherosclerotic intimal 10 aortas.
Materials and methods. Homogenization affected and normal sections of aortic intima. Conducting amplification study mutations and then holding pyrosequencing to identify percent heteroplasmy for a curious mutation.
Results. PThe data for the mutation G12315A shows that level of heteroplasmy in homogenates of atherosclerotic statistically significant higher compared with homogenates of normal vascular tissue.
Conclusion. The results suggest that a single nucleotide change of guanine to adenine at position 12315 of the mitochondrial genome leads to defect tRNA-Leu and the inability to perform its function of mutant tRNAs. A consequence of the critical level of heteroplasmy for the mutation is reduction of enzymes in the mitochondrial respiratory chain, leading to decrease of cell energy level.