Epigenetic aberration of gene expression in endometriosis.
Epigenetic aberration of gene expression in endometriosis.
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DOI：
10.2741/e669
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发表时间：
2013-06
期刊：
影响因子：
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通讯作者：
M. Izawa;F. Taniguchi;N. Terakawa;T. Harada
中科院分区：
文献类型：
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作者：
M. Izawa;F. Taniguchi;N. Terakawa;T. Harada
子宫内膜异位症是一种雌激素依赖性炎症性疾病。在乳腺癌组织中，高雌激素环境与芳香化酶基因的上调有关。越来越多的证据支持子宫内膜异位症是一种与表观遗传疾病相关的疾病。表观遗传学是当前生物医学研究中最具发展前景的领域之一。“表观遗传学”一词指的是研究基因表达中的有丝分裂和/或减数分裂可遗传变化，而不发生DNA序列的变化。这种变化的中断（表观遗传畸变或紊乱）是多种病理学的基础。表观遗传调控包括DNA甲基化和组蛋白修饰，并且负责与区分疾病状态的染色质修饰相关的许多基因转录。在这篇综述中，我们总结了我们的研究以及最近的研究从其他实验室使用表观遗传学的方法集中在DNA甲基化。我们还总结了使用先进技术的研究，包括全基因组（GW）甲基化分析和GW关联研究（GWAS）。我们回顾了最近同卵双生子的研究与环境因素，因为他们可能提供洞察子宫内膜异位症的表观遗传背景。最后，我们提出了GW DNA甲基化的新概念。
Endometriosis is an estrogen-dependent inflammatory disease. In endometriotic tissues, a high-estrogen environment associated with up-regulation of the aromatase gene has been well documented. There is accumulating evidence supporting a concept that endometriosis is a disease associated with an epigenetic disorder. Epigenetics is one of the most expanding fields in the current biomedical research. The word 'epigenetics' refers to the study of mitotically and/or meiotically heritable changes in gene expression that occur without changes in the DNA sequence. The disruption of such changes (epigenetic aberration or disorder) underlies a wide variety of pathologies. Epigenetic regulation includes DNA methylation and histone modifications, and is responsible for a number of gene transcription associated with chromatin modifications that distinguish the states of diseases. In this review, we summarized our studies as well as recent studies from other laboratories using an epigenetic approach focused on DNA methylation. We also summarized studies using advanced technologies including Genome-Wide (GW) methylation profiling analysis and GW Association Study (GWAS). We reviewed recent monozygotic twins studies in relation to environmental factors since they may provide insight into the epigenetic background of endometriosis. Finally, we referred to a new concept of GW DNA methylation.