Analysis of heteroplasmy in the major noncoding region of mitochondrial DNA in the blood and atherosclerotic plaques of carotid arteries

被引：1

作者：

Golubenko, M. V. ^{[1
,2
,3
]}

Nazarenko, M. S. ^{[1
,3
]}

Frolov, A. V. ^{[2
]}

Sleptsov, A. A. ^{[1
,3
]}

Markov, A. V. ^{[1
,3
]}

Glushkova, M. E. ^{[3
]}

Barbarash, O. L. ^{[2
]}

Puzyrev, V. P. ^{[1
,3
]}

机构：

[1] Res Inst Med Genet, Tomsk 634050, Russia

[2] Res Inst Complex Issues Cardiovasc Dis, Kemerovo 650002, Russia

[3] Natl Res Tomsk State Univ, Inst Biol, Lab Human Oncogenet, Tomsk 634050, Russia

来源：

RUSSIAN JOURNAL OF GENETICS | 2016年 / 52卷 / 04期

基金：

俄罗斯科学基金会;

关键词：

mitochondrial DNA; somatic mutations; atherosclerosis; POLYMORPHISM; SEQUENCE; DELETION; DAMAGE; CELLS; MTDNA;

D O I：

10.1134/S1022795416040049

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

For identification of somatic mitochondrial DNA (mtDNA) mutations, the mtDNA major noncoding region (D-loop) sequence in blood samples and carotid atherosclerosis plaques from patients with atherosclerosis was analyzed. Five point heteroplasmic positions were observed in 4 of 23 individuals (17%). Only in two cases could heteroplasmy have resulted from somatic mutation, whereas three heteroplasmic positions were found in both vascular tissue and blood. In addition, length heteroplasmy in a polycytosine stretches was registered at nucleotide positions 303-315 in 16 individuals, and also in the 16184-16193 region in four patients. The results suggest that somatic mtDNA mutations can occur during atherosclerosis, but some heteroplasmic mutations may appear in all tissues, possibly being inherited.

引用

页码：436 / 440

页数：5

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