Epigenetics and airways disease.

Epigenetics and airways disease.
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表观遗传学和气道疾病。

DOI:
10.1186/1465-9921-7-21
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发表时间:
2006-02-06
影响因子:
5.8
通讯作者:
Barnes, PJ
Barnes, PJ
中科院分区:
医学2区
文献类型:
--
作者:
Adcock, IM;Ford, P;Ito, K;Barnes, PJ

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表观遗传学是一个术语,用来描述基因表达的可遗传变化,这些变化不是在DNA序列本身中编码的,而是通过DNA和组蛋白的翻译后修饰来实现的。这些修饰包括组蛋白乙酰化、甲基化、泛素化、苏莫化和磷酸化。表观遗传调控不仅对哺乳动物发育过程中细胞类型的多样性产生至关重要,而且对维持不同类型细胞表达谱的稳定性和完整性也很重要。直到最近,对人类疾病的研究一直集中在遗传机制上,而不是非编码事件。然而,越来越清楚的是,表观遗传过程的中断可以导致几种主要的病理,包括癌症、涉及染色体不稳定的综合征和智力低下。此外,据报道,调节这些表观遗传修饰的酶的表达和活性在呼吸系统疾病患者的呼吸道中是异常的。新诊断工具的开发可能会揭示由表观遗传变化引起的其他疾病。尽管这些变化是可遗传和稳定维持的,但也有可能是可逆的,还有开发疾病的“表观遗传疗法”的余地。
Epigenetics is the term used to describe heritable changes in gene expression that are not coded in the DNA sequence itself but by post-translational modifications in DNA and histone proteins. These modifications include histone acetylation, methylation, ubiquitination, sumoylation and phosphorylation. Epigenetic regulation is not only critical for generating diversity of cell types during mammalian development, but it is also important for maintaining the stability and integrity of the expression profiles of different cell types. Until recently, the study of human disease has focused on genetic mechanisms rather than on non-coding events. However, it is becoming increasingly clear that disruption of epigenetic processes can lead to several major pathologies, including cancer, syndromes involving chromosomal instabilities, and mental retardation. Furthermore, the expression and activity of enzymes that regulate these epigenetic modifications have been reported to be abnormal in the airways of patients with respiratory disease. The development of new diagnostic tools might reveal other diseases that are caused by epigenetic alterations. These changes, despite being heritable and stably maintained, are also potentially reversible and there is scope for the development of 'epigenetic therapies' for disease.
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