News Release

细胞触角缺陷会引发一种常见的心脏病

Peer-Reviewed Publication

American Association for the Advancement of Science (AAAS)

Defects in Cellular Antennae Can Cause a Common Heart Condition (2 of 3)

video: Toomer et al. found that primary cilia (green), which serve as cellular antennae to receive signals from the extracellular space (grey) are required for cardiac valve development. Blue stained are cell nuclei. This material relates to a paper that appeared in the May 22, 2019, issue of Science Translational Medicine, published by AAAS. The paper, by K. Toomer at Medical University of South Carolina in Charleston, SC; and colleagues was titled, 'Primary cilia defects causing mitral valve prolapse.' view more 

Credit: Katelynn Toomer, Johns Hopkins postdoctoral Fellow; Russell Norris, Associate Professor of Medicine, the Medical University of South Carolina

Katelynn Toomer和同事发现,一种细小的、毛发状细胞结构缺陷会导致二尖瓣脱垂(MVP);后者是一种常见的心脏病;全球每40人中会有多达1人罹患此病。他们的发现是基于一项对具有遗传型二尖瓣脱垂的多个世代家族所做的遗传学分析,该分析结果发现了这种普遍存在但对其了解甚少疾病的潜在基础病因。MVP通常在患者中仅引发轻微症状,但在某些病例中,它会导致心律异常及心功能丧失。尽管该病颇为常见,但科学家们还不充分理解MVP为何发生或它是如何在心脏中逐步进展的。在本研究中,Toomer等人对人和小鼠的二尖瓣发育进行了追踪;他们发现在瓣膜组织中的一种纤毛-触角状结构(它能接受来自细胞外的信号)的丧失会引发与MVP患者中所见缺陷形成映照的先天性缺陷。他们还对一个多世代家族(有43个成员,他们中有11人罹患遗传型MVP)的基因表达以及一个先前对1412名MVP病例所做的遗传学研究数据进行了研究。分析揭示,罹患MVP的病人含有一个名叫 DZIP1 的基因突变,该基因的正常功能是指导纤毛的正确生长。进一步的实验显示,缺乏 DZIP1 的小鼠幼崽会在发育中展现纤毛形成受损,后者在生命后期会接着出现MVP和瓣膜缺陷。本研究对MVP基因与细胞起源的了解或能推动针对该病的基于药物干预方案的设计;该病目前仅能进行手术治疗。

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