McAllister Heart Institute, University of North Carolina , Chapel Hill, NC , USA.
Department of Pharmacology, University of North Carolina , Chapel Hill, NC , USA.
Front Cardiovasc Med. 2015 May 19;2:25. doi: 10.3389/fcvm.2015.00025. eCollection 2015.
As the most common cause of death and disability, globally, heart disease remains an incompletely understood enigma. A growing number of cardiac diseases are being characterized by the presence of misfolded proteins underlying their pathophysiology, including cardiac amyloidosis and dilated cardiomyopathy (DCM). At least nine precursor proteins have been implicated in the development of cardiac amyloidosis, most commonly caused by multiple myeloma light chain disease and disease-causing mutant or wildtype transthyretin (TTR). Similarly, aggregates with PSEN1 and COFILIN-2 have been identified in up to one-third of idiopathic DCM cases studied, indicating the potential predominance of misfolded proteins in heart failure. In this review, we present recent evidence linking misfolded proteins mechanistically with heart failure and present multiple lines of new therapeutic approaches that target the prevention of misfolded proteins in cardiac TTR amyloid disease. These include multiple small molecule pharmacological chaperones now in clinical trials designed specifically to support TTR folding by rational design, such as tafamidis, and chaperones previously developed for other purposes, such as doxycycline and tauroursodeoxycholic acid. Last, we present newly discovered non-pathological "functional" amyloid structures, such as the inflammasome and necrosome signaling complexes, which can be activated directly by amyloid. These may represent future targets to successfully attenuate amyloid-induced proteotoxicity in heart failure, as the inflammasome, for example, is being therapeutically inhibited experimentally in autoimmune disease. Together, these studies demonstrate multiple novel points in which new therapies may be used to primarily prevent misfolded proteins or to inhibit their downstream amyloid-mediated effectors, such as the inflammasome, to prevent proteotoxicity in heart failure.
作为全球范围内最常见的死亡和残疾原因,心脏病仍然是一个尚未完全被理解的谜团。越来越多的心脏疾病的特征是存在错误折叠的蛋白质,这些蛋白质是其病理生理学的基础,包括心脏淀粉样变性和扩张型心肌病(DCM)。至少有九种前体蛋白与心脏淀粉样变性的发展有关,最常见的是多发性骨髓瘤轻链疾病和致病突变或野生型转甲状腺素蛋白(TTR)。同样,在研究的高达三分之一的特发性 DCM 病例中,已经鉴定出 PSEN1 和 COFILIN-2 的聚集体,这表明错误折叠的蛋白质在心力衰竭中可能占主导地位。在这篇综述中,我们提出了最近的证据,将错误折叠的蛋白质与心力衰竭在机制上联系起来,并提出了多种新的治疗方法,这些方法针对预防心脏 TTR 淀粉样变性疾病中错误折叠的蛋白质。这些方法包括现在正在临床试验中的多种小分子药理学伴侣,这些药物专门通过合理设计来支持 TTR 折叠,例如 tafamidis,以及以前为其他目的开发的伴侣,例如多西环素和牛磺熊脱氧胆酸。最后,我们介绍了新发现的非病理性“功能性”淀粉样结构,例如炎症小体和坏死小体信号复合物,这些结构可以直接被淀粉样蛋白激活。这些可能代表未来成功减轻心力衰竭中淀粉样蛋白诱导的蛋白毒性的目标,例如,炎症小体在自身免疫性疾病中正在通过实验进行治疗性抑制。总之,这些研究表明,在多种新疗法中,可以主要预防错误折叠的蛋白质,或者抑制其下游淀粉样介导的效应物,例如炎症小体,以预防心力衰竭中的蛋白毒性。