Analysis of mutation of mitochondrial gene heteroplasmy C5178A NADH dehydrogenase subunit 2 in aortic intima damaged gomogenatah
Kosogorova S.A.(3), Sazonova М.А.(1,2,3), Chicheva M.M. (1,2), Mitrofanov K.Yu.(1,2), Zhelankin A.V.(1,2), Korobov G.A.(1,2), Sobenin I.A.(1,2,3)
1 Institute of General Pathology and Pathophysiology RAMS , Moscow, Russian Federation;
2 Russian Cardiology Research and Production Complex, Moscow, Russian Federation;
3 Institute for Atherosclerosis Research, Skolkovo Innovative Centre; Moscow, Russian Federation.
Brief summary
An analysis of heteroplasmy level was made in DNA samples with mutation of mitochondrial genome C5178A NADH dehydrogenase subunit 2 in DNA samples isolated from total homogenates of normal and atherosclerotic intimal 10 aortas. It was revealed that the heteroplasmy level of the mutant allele С5178A in homogenates of atherosclerotic lesions is significantly higher compared to total homogenates of normal intima.
2. Jelankin A.V., Sazonova M.A. Rol mytacii mitohondrialnogo genoma cheloveka v razvitii saharnogo diabeta 2 tipa, arterialnoi gipertonii i razlichnih vidov kardiomiopatii. // Problemi i perspektivi sovremennoi nayki. 2011.3(1) s.85-87.
3. Mitrofanov K.U., Sazonova M.A. Svyaz mytacii mitohondrialnogo genoma cheloveka s klinicheskimi proyavleniyami ishemicheskoi bolezni serdca. // Problemi i perspektivi sovremennoi nayki. 2011.3(1). s.92-96.
4. Igamberdiev A.Y. Ynikalnaya geneticheskaya sistema mitohondrii. // Sorosovskii obrazovatelnii jyrnal , tom 6 , № 1 , 2000, str. 3.
5. Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. // Genetics. 1992 Jan; 130(1), 163-73.
6. Sazonova M.A., Budnikov E.Y., Khasanova Z.B., Sobenin I.A., Postnov A.Y., Orekhov A.N. Studies of the human aortic intima by a direct quantitative assay of mutant alleles in the mitochondrial genome. // Atherosclerosis. 2009.t.204. №1. s. 184–190.
7. Sazonova MA, Budnikov YY, Khazanova ZB, Postnov AY, Sobenin IA, Orekhov AN. Direct quantitative assessment of mutant allele in mitochondrial genome in atherosclerotic lesion of human aorta. // 76th Congress of the European Atherosclerosis Society, Helsinki, Finland, June 10-13, 2007. Atherosclerosis Suppl. 2007 8(1):45-46.
8. Sazonova MA, Ivanova MM, Jelankin AV, Mitrofanov KU, Hasanova ZB, Sobenin IA, Myasoedova VA, Postnov AU, Orehov AN. Pryamaya kolichestvennaya ocenka mytantnogo allelya mitohondrialnogo genoma. // Fyndamentalnie nayki i praktika, Materiali trydov vtoroi mejdynarodnoi telekonferencii, 2010 g., t.1, №2, str.19-21.