Genetics and Genomics Group, Sanford Research, 2301 E. 60(th) Street N., Sioux Falls, SD 57104, United States of America; School of Health Sciences, University of South Dakota, 414 E Clark St, Vermillion, SD 57069, United States of America.
Genetics and Genomics Group, Sanford Research, 2301 E. 60(th) Street N., Sioux Falls, SD 57104, United States of America.
J Mol Cell Cardiol. 2020 Apr;141:43-52. doi: 10.1016/j.yjmcc.2020.02.010. Epub 2020 Mar 21.
Cardiovascular disease is a pressing health problem with significant global health, societal, and financial burdens. Understanding the molecular basis of polygenic cardiac pathology is thus essential to devising novel approaches for management and treatment. Recent identification of uncharacterized regulatory functions for a class of nuclear envelope proteins called nucleoporins offers the opportunity to understand novel putative mechanisms of cardiac disease development and progression. Consistent reports of nucleoporin deregulation associated with ischemic and dilated cardiomyopathies, arrhythmias and valvular disorders suggests that nucleoporin impairment may be a significant but understudied variable in cardiopathologic disorders. This review discusses and converges existing literature regarding nuclear pore complex proteins and their association with cardiac pathologies, and proposes a role for nucleoporins as facilitators of cardiac disease.
心血管疾病是一个紧迫的健康问题,给全球健康、社会和经济带来了重大负担。因此,了解多基因心脏病理学的分子基础对于制定管理和治疗的新方法至关重要。最近发现了一类称为核孔蛋白的核膜蛋白的未被描述的调节功能,这为理解心脏疾病发展和进展的新的潜在机制提供了机会。核孔蛋白失调与缺血性和扩张型心肌病、心律失常和瓣膜疾病相关的一致报告表明,核孔蛋白损伤可能是心脏病理紊乱中一个重要但研究不足的变量。这篇综述讨论并综合了现有的关于核孔复合体蛋白及其与心脏病理的关联的文献,并提出核孔蛋白作为心脏疾病促进剂的作用。