A. N. Kucher, S. A. Shipulina, I. A. Goncharova, M. S. Nazarenko
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引用次数: 0
Abstract
Abstract—
Aortic aneurysm (AA) is a life-threatening condition, and aortic rupture that is the complication of AA in the absence of emergency surgery leads to death. Genetic (more often in thoracic AA—TAA) and environmental factors (in TAA and abdominal AA—AAA) contribute to the development of AA. This review summarizes the data of scientific publications devoted to the study of DNA methylation under the influence of AA risk factors, as well as in the cells of different parts of the aorta (thoracic, abdominal) in normal and pathological conditions. Changes in DNA methylation are observed in aortic and/or blood cells in the presence of AA risk factors (arterial hypertension, smoking, age, and comorbidities). Studies of DNA methylation in TAA and AAA are few and have been conducted using different approaches to sample formation, cell sample selection, and experimental methods. However, they provide convincing evidence of the altered DNA methylation status of genes selected for study using a candidate approach (in the AAA study), as well as of different genomic regions in genome-wide DNA methylation analysis (mainly in TAA studies). Genes localized in differentially methylated regions are associated with the functioning of the cardiovascular system and are involved in cellular and metabolic processes pathogenetically significant for the development of AA. In a number of cases, the association of DNA methylation levels with clinical parameters in AA has been established. These results indicate the prospect of expanding the studies of DNA methylation in AA, including the identification of new pathogenetically significant links in AA development.
摘要-主动脉瘤(AA)是一种危及生命的疾病,主动脉破裂是AA的并发症,如果没有进行紧急手术,就会导致死亡。遗传因素(多见于胸部 AA-TAA)和环境因素(多见于 TAA 和腹部 AA-AAA)是 AA 的发病原因。本综述总结了专门研究 AA 风险因素影响下 DNA 甲基化以及正常和病理情况下主动脉(胸腔、腹腔)不同部位细胞中 DNA 甲基化的科学出版物数据。在存在 AA 风险因素(动脉高血压、吸烟、年龄和合并症)的情况下,主动脉和/或血液细胞中的 DNA 甲基化会发生变化。有关 TAA 和 AAA 中 DNA 甲基化的研究很少,而且采用的样本形成、细胞样本选择和实验方法也不尽相同。不过,这些研究提供了令人信服的证据,证明使用候选方法(在 AAA 研究中)选择研究的基因以及全基因组 DNA 甲基化分析(主要在 TAA 研究中)中不同基因组区域的 DNA 甲基化状态发生了改变。定位在不同甲基化区域的基因与心血管系统的功能有关,并参与细胞和代谢过程,对 AA 的发病具有重要的病理意义。在一些病例中,DNA 甲基化水平与 AA 的临床参数之间的关联已经得到证实。这些结果表明,有望扩大对 AA 中 DNA 甲基化的研究,包括确定 AA 发展过程中新的重要致病环节。
期刊介绍:
Russian Journal of Genetics is a journal intended to make significant contribution to the development of genetics. The journal publishes reviews and experimental papers in the areas of theoretical and applied genetics. It presents fundamental research on genetic processes at molecular, cell, organism, and population levels, including problems of the conservation and rational management of genetic resources and the functional genomics, evolutionary genomics and medical genetics.