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引用次数: 0
摘要
表观遗传学研究基因组和基因表达模式的可遗传变化,这些变化并非由 DNA 序列的直接变化引起。这些变化的例子包括 DNA 结合组蛋白的翻译后修饰、DNA 甲基化和核结构重塑。总的来说,表观遗传学变化提供了一层调控,在不改变 DNA 序列的情况下影响基因的转录活性。在先天性心脏病(CHD)患者中发现了影响负责修饰或感知表观遗传标记的酶的序列变异或突变,而表观遗传复合物的小分子抑制剂已显示出治疗成人心脏病的前景。此外,编码表观遗传酶的基因发生突变或缺失的转基因小鼠可再现人类心脏疾病的某些方面。总之,这些研究结果表明,不断发展的表观遗传学领域将有助于我们了解先天性和成人心脏病,并提供新的治疗机会。
Epigenetics is the study of heritable changes to the genome and gene expression patterns that are not caused by direct changes to the DNA sequence. Examples of these changes include posttranslational modifications to DNA-bound histone proteins, DNA methylation, and remodeling of nuclear architecture. Collectively, epigenetic changes provide a layer of regulation that affects transcriptional activity of genes while leaving DNA sequences unaltered. Sequence variants or mutations affecting enzymes responsible for modifying or sensing epigenetic marks have been identified in patients with congenital heart disease (CHD), and small-molecule inhibitors of epigenetic complexes have shown promise as therapies for adult heart diseases. Additionally, transgenic mice harboring mutations or deletions of genes encoding epigenetic enzymes recapitulate aspects of human cardiac disease. Taken together, these findings suggest that the evolving field of epigenetics will inform our understanding of congenital and adult cardiac disease and offer new therapeutic opportunities.
期刊介绍:
Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields.