哥本哈根大学研究人员发现了位于细胞表面初生纤毛内的一种新型通信机制，由TAK1、TAB2和PKA-Cα三种蛋白质组成，这些蛋白质的遗传突变可能导致先天性心脏病1。研究表明，这一机制不仅影响心脏发育，还可能波及大脑、肾脏和骨骼等多个器官的发育1。相关研究成果已发表在《PLOS Biology》2026年第24卷第8期1。
研究人员分析了数千名先天性心脏病患者的遗传数据，并通过斑马鱼、人类细胞和小鼠干细胞实验进行了验证1。全球约200个新生儿中就有2个患有先天性心脏病，每年约230万至250万新生儿患此病，估计目前全球有1600万人正生活在这种疾病中1。哥本哈根大学教授Lars Allan Larsen表示："我们发现了细胞表面的一个新的通信系统，这对心脏在胚胎发育中的正常形成至关重要"1。研究合作者Søren Tvorup Christensen教授指出："当纤毛机制失效时，通常会影响多个其他器官的发育"1。
Researchers at the University of Copenhagen have identified a new cellular communication mechanism located within primary cilia—tiny hair-like structures on cell surfaces—that may be critical to understanding congenital heart disease.1 The mechanism involves three proteins: TAK1, TAB2, and PKA-Cα, and genetic mutations in these proteins could lead to heart defects and affect development of other organs including the brain, kidneys, and bones.1
The study, published in PLOS Biology in 2026, analyzed genetic data from thousands of patients with congenital heart disease and was supported by experiments using zebrafish, human cells, and mouse stem cells.1 According to the research, approximately 2 in every 200 newborns worldwide have congenital heart disease, with an estimated 2.3 to 2.5 million new cases annually and roughly 16 million people living with the condition as of 2023.1
Professor Lars Allan Larsen stated that "we have discovered a new communication system on the cell surface that is crucial for the normal formation of the heart during embryonic development."1 His colleague, Professor Søren Tvorup Christensen, added that "when the ciliary mechanism fails, it typically affects the development of multiple other organs as well."1
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