表观遗传学与人类疾病：将基础生物学转化为临床应用
Epigenetics and human disease: translating basic biology into clinical applications.
作者信息
Rodenhiser David, Mann Mellissa
机构信息
EpiGenWestern Research Group, Children's Health Research Institute, London, Ont.
出版信息
CMAJ. 2006 Jan 31;174(3):341-8. doi: 10.1503/cmaj.050774.
Epigenetics refers to the study of heritable changes in gene expression that occur without a change in DNA sequence. Research has shown that epigenetic mechanisms provide an "extra" layer of transcriptional control that regulates how genes are expressed. These mechanisms are critical components in the normal development and growth of cells. Epigenetic abnormalities have been found to be causative factors in cancer, genetic disorders and pediatric syndromes as well as contributing factors in autoimmune diseases and aging. In this review, we examine the basic principles of epigenetic mechanisms and their contribution to human health as well as the clinical consequences of epigenetic errors. In addition, we address the use of epigenetic pathways in new approaches to diagnosis and targeted treatments across the clinical spectrum.
表观遗传学是指对基因表达中可遗传变化的研究，这些变化发生在DNA序列不变的情况下。研究表明，表观遗传机制提供了一层“额外”的转录控制，调节基因的表达方式。这些机制是细胞正常发育和生长的关键组成部分。已发现表观遗传异常是癌症、遗传疾病和儿科综合征的致病因素，也是自身免疫性疾病和衰老的促成因素。在本综述中，我们研究了表观遗传机制的基本原理及其对人类健康的贡献，以及表观遗传错误的临床后果。此外，我们还讨论了表观遗传途径在临床全谱新诊断方法和靶向治疗中的应用。
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