Gladstone Institutes, San Francisco, California, USA.
Division of Cardiology, Department of Medicine, UCSF, San Francisco, California, USA.
J Clin Invest. 2020 Sep 1;130(9):4536-4539. doi: 10.1172/JCI140304.
Heart failure (HF) with reduced contractile function is a common and lethal syndrome in which the heart cannot pump blood to adequately meet bodily demands, resulting in high mortality despite the current standard of care. In modern societies, the most common drivers of HF are ischemic heart disease and hypertension. However, in a substantial subset of cases, patients present with dilated and poorly contracting hearts without evidence of common inciting stressors, a syndrome called dilated cardiomyopathy (DCM). Genome sequencing has identified a host of deleterious germline variants in key cardiomyocyte genes as causes of heritable DCM, including mutations in LMNA, which encodes the nuclear lamina-associated protein lamin A/C. In this issue of the JCI, Auguste et al. generate a mouse model of DCM in which they delete Lmna in cardiomyocytes and discover that bromodomain and extraterminal (BET) protein activation is a druggable epigenetic mechanism of disease pathogenesis in this heritable HF syndrome.
心力衰竭(HF)伴有收缩功能障碍是一种常见且致命的综合征,心脏无法泵出足够的血液来满足身体的需求,尽管目前有标准的治疗方法,但死亡率仍然很高。在现代社会中,HF 的最常见驱动因素是缺血性心脏病和高血压。然而,在相当一部分病例中,患者表现为扩张和收缩不良的心脏,没有常见的诱发压力的证据,这种综合征称为扩张型心肌病(DCM)。基因组测序已经确定了一系列关键心肌细胞基因中的有害种系变异是遗传性 DCM 的原因,包括编码核层相关蛋白 lamin A/C 的 LMNA 基因突变。在本期 JCI 中,Auguste 等人生成了一种 DCM 的小鼠模型,他们在心肌细胞中删除了 Lmna,并发现溴结构域和末端(BET)蛋白的激活是这种遗传性 HF 综合征的一种可药物治疗的疾病发病机制的表观遗传机制。