Genomics & Pharmacogenomics

Biography

Biography: Igor A Sobenin

Abstract

In human pathology, several diseases are associated with mutations in the mitochondrial genome (mtDNA). Genetic predisposition plays an important role amidst the other risk factors in the development of atherosclerosis, a socially signifi cant multifactorial disease. Even though mitochondrial dysfunction leads to increased oxidative stress, the role of mitochondrial mutations in atherosclerosis has not received much attention so far. Conclusions: Th e focality and mosaic character of atherosclerotic lesions in human aortic intima may be due to the diff erences in the heteroplasmy level of mtDNA mutations to a great extent, and a certain profile of pro and anti-atherosclerotic mutations of mitochondrial genome is characteristic for diff erent types of atherosclerotic lesions. Th e presence of heteroplasmic nonsynonymous mtDNA mutations may lead to mitochondrial dysfunction in specifi c sites of intimal tissue. Th e data obtained in clinical study can be used to assess individual risk of atherosclerosis, as well as for further studies on the role of mitochondrial genome mutations in the development of atherosclerosis and its clinical manifestations. Th e individual profi le of certain mtDNA variants may partially explain atherosclerosis variability and genetic predisposition to atherosclerosis in population, which could be inherited by maternal line.