Programme in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore, 169857, Republic of Singapore.
Department of Emergency and Organ Transplantation (DETO), University of Bari, 70124, Bari, Italy.
Nat Commun. 2019 Aug 9;10(1):3616. doi: 10.1038/s41467-019-11551-9.
Cardiac fibrosis is a final common pathology in inherited and acquired heart diseases that causes cardiac electrical and pump failure. Here, we use systems genetics to identify a pro-fibrotic gene network in the diseased heart and show that this network is regulated by the E3 ubiquitin ligase WWP2, specifically by the WWP2-N terminal isoform. Importantly, the WWP2-regulated pro-fibrotic gene network is conserved across different cardiac diseases characterized by fibrosis: human and murine dilated cardiomyopathy and repaired tetralogy of Fallot. Transgenic mice lacking the N-terminal region of the WWP2 protein show improved cardiac function and reduced myocardial fibrosis in response to pressure overload or myocardial infarction. In primary cardiac fibroblasts, WWP2 positively regulates the expression of pro-fibrotic markers and extracellular matrix genes. TGFβ1 stimulation promotes nuclear translocation of the WWP2 isoforms containing the N-terminal region and their interaction with SMAD2. WWP2 mediates the TGFβ1-induced nucleocytoplasmic shuttling and transcriptional activity of SMAD2.
心肌纤维化是遗传性和获得性心脏病的共同终末病理,可导致心脏电和泵衰竭。在这里,我们使用系统遗传学来鉴定患病心脏中的促纤维化基因网络,并表明该网络受 E3 泛素连接酶 WWP2 的调节,特别是受 WWP2-N 端同工型的调节。重要的是,由 WWP2 调节的促纤维化基因网络在不同以纤维化为特征的心脏疾病中是保守的:人类和鼠扩张型心肌病和修复性法洛四联症。缺乏 WWP2 蛋白 N 端区域的转基因小鼠在应对压力超负荷或心肌梗死时表现出改善的心脏功能和减少的心肌纤维化。在原代心肌成纤维细胞中,WWP2 正向调节促纤维化标记物和细胞外基质基因的表达。TGFβ1 刺激促进含有 N 端区域的 WWP2 同工型的核易位及其与 SMAD2 的相互作用。WWP2 介导 TGFβ1 诱导的 SMAD2 的核质穿梭和转录活性。