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Mitrofanov KY, Zhelankin AV, Shiganova GM, Sazonova MA, Bobryshev YV, Postnov AY, Sobenin IA, Orekhov AN.

Exp Mol Pathol. 2015 Dec 3. pii: S0014-4800(15)00250-6. doi: 10.1016/j.yexmp.2015.12.003. [Epub ahead of print]

Abstract

The present study was undertaken in order to advance our earlier studies directed to define genetic risk of atherosclerotic vascular lesion development on a base on the analysis of sets of mutational load relevant to the mitochondrial genome mutations. A comparative evaluation of the two study participants' populations (that included coronary heart disease (CHD) patients who underwent myocardial infarction and apparently healthy donors with no clinical manifestations of coronary heart disease) on heteroplasmy levels of nine mutations of the mitochondrial genome (A1555G, C3256T, T3336C, С5178А, G12315A, G13513A, G14459A, G14846А and G15059A) that were shown previously to be associated with risk factors for atherosclerosis was performed. Close associations with the risk of cardiovascular disease were confirmed for mutation C3256T (gene MT-TL1), G12315A (gene MT-TL2), G13513A (gene MT-ND5) and G15059A (gene MT-CYB) by RT-PCR.

Copyright © 2015. Published by Elsevier Inc.

KEYWORDS:

Atherosclerosis; Coronary heart disease; Heteroplasmy; Infarction; Mitochondrial mutations