Department of Systems Pharmacology and Translational Therapeutics.
Cardiovascular Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
JCI Insight. 2019 Mar 21;4(6). doi: 10.1172/jci.insight.124629.
About one-third of dilated cardiomyopathy (DCM) cases are caused by mutations in sarcomere or cytoskeletal proteins. However, treating the cytoskeleton directly is not possible because drugs that bind to actin are not well tolerated. Mutations in the actin binding protein CAP2 can cause DCM and KO mice, either whole body (CAP2-KO) or cardiomyocyte-specific KOs (CAP2-CKO) develop DCM with cardiac conduction disease. RNA sequencing analysis of CAP2-KO hearts and isolated cardiomyocytes revealed overactivation of fetal genes, including serum response factor-regulated (SRF-regulated) genes such as Myl9 and Acta2 prior to the emergence of cardiac disease. To test if we could treat CAP2-KO mice, we synthesized and tested the SRF inhibitor CCG-1423-8u. CCG-1423-8u reduced expression of the SRF targets Myl9 and Acta2, as well as the biomarker of heart failure, Nppa. The median survival of CAP2-CKO mice was 98 days, while CCG-1423-8u-treated CKO mice survived for 116 days and also maintained normal cardiac function longer. These results suggest that some forms of sudden cardiac death and cardiac conduction disease are under cytoskeletal stress and that inhibiting signaling through SRF may benefit DCM by reducing cytoskeletal stress.
大约三分之一的扩张型心肌病 (DCM) 是由肌节或细胞骨架蛋白的突变引起的。然而,由于与肌动蛋白结合的药物不能很好地耐受,因此直接治疗细胞骨架是不可能的。肌动蛋白结合蛋白 CAP2 的突变可导致 DCM,全身敲除 (CAP2-KO) 或心肌细胞特异性敲除 (CAP2-CKO) 的 KO 小鼠均出现 DCM 伴心脏传导疾病。CAP2-KO 心脏和分离的心肌细胞的 RNA 测序分析显示,在出现心脏疾病之前,胎儿基因过度激活,包括血清反应因子调节的 (SRF 调节) 基因,如 Myl9 和 Acta2。为了测试我们是否可以治疗 CAP2-KO 小鼠,我们合成并测试了 SRF 抑制剂 CCG-1423-8u。CCG-1423-8u 降低了 SRF 靶标 Myl9 和 Acta2 的表达,以及心力衰竭的生物标志物 Nppa。CAP2-CKO 小鼠的中位存活时间为 98 天,而用 CCG-1423-8u 治疗的 CKO 小鼠存活时间为 116 天,并且更长时间保持正常的心脏功能。这些结果表明,某些形式的心脏性猝死和心脏传导疾病是由细胞骨架应激引起的,通过抑制 SRF 的信号传导可能通过减轻细胞骨架应激而有益于 DCM。