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
收藏
页码：436 / 440
页数：5
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