Studies of the human aortic intima by a direct quantitative assay of mutant alleles in the mitochondrial genome

被引：42

作者：

Sazonova, M. ^{[1
]}

Budnikov, E. ^{[2
]}

Khasanova, Z. ^{[2
]}

Sobenin, I. ^{[1
]}

Postnov, A. ^{[2
]}

Orehov, A. ^{[1
]}

机构：

[1] Russian Acad Med Sci, Inst Gen Pathol & Pathophysiol, Moscow 125315, Russia

[2] Russian Cardiol Res & Prod Complex, Moscow 121552, Russia

来源：

ATHEROSCLEROSIS | 2009年 / 204卷 / 01期

关键词：

Mitochondrial mutations; Quantitative assay method; Atherosclerotic lesions of intima; POINT MUTATION; DNA MUTATIONS; NUCLEIC-ACID; GENE; DEFICIENCY; PATIENT; TYPE-2; ONSET; MELAS;

D O I：

10.1016/j.atherosclerosis.2008.09.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A mutant allele quantitative assay was developed to study somatic mitochondrial mutations associated with human diseases. This assay may be used in the clinical diagnostics for diseases associated with somatic mutations. To detect somatic mutations associated with atherosclerotic lesions of the aortal intima, we analyzed 40 mitochondrial mutations previously identified in several pathological conditions. 10 mutations associated with lipofibrosis plaques were found in mitochondrial genes that encode rRNA 12S, tRNA-Leu (UUR recognition codon), tRNA-Leu (CUN recognition codon), subunits of 1, 2, 5, and 6 NADH-dehydrogenase, and cytochrome B. (C) 2008 Elsevier Ireland Ltd. All rights reserved.

引用

页码：184 / 190

页数：7

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