研究显示与经济舱综合症相关的突变如何导致过度凝血

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近年来,对于那些害怕飞行的人来说,又多了一个恐惧的理由。在长途飞行中保持坐姿不动的人可能会形成危险的血栓。易患可能导致所谓的经济舱综合症和其他与凝血相关的问题(一种称为血栓形成倾向的疾病)的已知遗传风险因素是:凝血因子凝血酶原基因中的突变。然而,这种在 1% 到 2% 的人口中发生的突变究竟是如何导致血栓形成倾向的,科学家们一直未能找到答案。奇怪的是,这种突变会提高血液中凝血酶原的水平,但不会改变凝血酶原蛋白的组成。现在,发表在最新一期《自然遗传学》杂志上的新研究终于揭示了这一神秘的机制。

柏林洪堡大学的安德烈亚斯·库洛齐克 (Andreas Kulozik) 及其同事发现,这种突变会影响凝血酶原 RNA 的产生,而凝血酶原 RNA 指导蛋白质的合成。凝血酶原 RNA 的产生通常按以下方式进行:凝血酶原 RNA 前体分子在一端被切割,释放出成熟的凝血酶原 RNA。结果表明,这种突变使该切割位点格外敏感,从而刺激了成熟凝血酶原 RNA 的生产速率,进而产生更多的凝血因子本身。作者指出,这种增强的加工效率“代表了一个显著的例子,说明 RNA 加工的定量微小激活如何能使人易患常见且严重的疾病。”

Kate Wong is an award-winning science writer and senior editor at 大众科学 focused on evolution, ecology, anthropology, archaeology, paleontology and animal behavior. She is fascinated by human origins, which she has covered for more than 25 years. Recently she has become obsessed with birds. Her reporting has taken her to caves in France and Croatia that Neandertals once called home, to the shores of Kenya's Lake Turkana in search of the oldest stone tools in the world, to Madagascar on an expedition to unearth ancient mammals and dinosaurs, to the icy waters of Antarctica, where humpback whales feast on krill, and on a "Big Day" race around the state of Connecticut to find as many bird species as possible in 24 hours. Kate is co-author, with Donald Johanson, of Lucy's Legacy: The Quest for Human Origins. She holds a bachelor of science degree in biological anthropology and zoology from the University of Michigan. Follow Wong on X (formerly Twitter) @katewong

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