表观遗传学是研究基因组和基因表达模式的可遗传变化，这些变化不是由DNA序列的直接变化引起的。这些变化的例子包括对DNA结合的组蛋白的翻译后修饰，DNA甲基化，和重建核架构。总的来说，表观遗传变化提供了一层调控，影响基因的转录活性，同时保持DNA序列不变。已经在先天性心脏病（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。和表观遗传复合物的小分子抑制剂已显示出有望作为成人心脏病的疗法。此外,具有编码表观遗传酶的基因突变或缺失的转基因小鼠概括了人类心脏病的各个方面。一起来看,这些研究结果表明,表观遗传学领域的发展将为我们理解先天性和成人心脏病提供新的治疗机会.
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.
