Core Insights - A key gene mutation in the human immune protein Fas ligand (FasL) may increase cancer susceptibility in humans compared to close relatives like chimpanzees, providing important clues for developing new cancer therapies [1][2] Group 1: Research Findings - The study published in Nature Communications highlights that elevated levels of plasmin, a protease, in the tumor microenvironment act like "molecular scissors" that cut mutated FasL, leading to a loss of its anti-cancer function [1] - This unique vulnerability in humans explains why immunotherapies like CAR-T are effective against blood cancers but struggle with solid tumors such as triple-negative breast cancer, as blood cancer cells do not rely on plasmin for dissemination [1] Group 2: Implications for Treatment - The mutation in FasL may have contributed to increased brain capacity in humans but also poses a risk for higher cancer susceptibility, suggesting a potential "key" to unlocking immunotherapy [2] - Blocking plasmin or protecting FasL could reactivate the immune system's anti-cancer capabilities, offering new strategies for treating challenging cancers like triple-negative breast cancer through the combined use of plasmin inhibitors and existing therapies [2]

对于大多数人而言，每晚需要大约 8 小时的睡眠才能恢复精力，但有一些罕见的基因突变使得有些人每晚 只需睡 3 小时就能精力充沛。 了解这些天生睡眠时间短 （每晚只需睡 3-6 个小时且没有不良影响） 的人的基因变化情况，有助于开发 治疗睡眠障碍的方法。 2025 年 5 月 5 日， 中国科学院上海药物所/中国科学院药物创新研究院中山（华南）研究院 时广森 研究 员团队联合 加州大学旧金山分校 傅嫈惠 教授团队，在 《 美国国家科学院院刊 》 （PNAS） 发表了题为 ： The SIK3-N783Y mutation is associated with the human natural short sleep trait 的研究论文 【1】 。 撰文丨王聪 编辑丨王多鱼 排版丨水成文 该研究发现了一种新的基因突变—— SIK3-N783Y ，这种突变可能有助于解释为何有些人睡眠需求少。 在睡觉时，我们的身体仍在运转，进行自我排毒和修复损伤。而这些天生睡眠时间短的人在睡觉时身体所 进行的这些功能，显然效率要更高、发挥要更好。 自 21 世纪初以来， 傅嫈惠 团队接触到了一对 天生睡眠时间短的母女，她们每天 ...

Core Insights - A recent study by scientists at the University of California, San Francisco, has identified a gene mutation that may allow some individuals to require less sleep, potentially due to genetic factors rather than lifestyle choices [1][2] - The research began over 20 years ago when scientists analyzed the DNA of a mother-daughter pair who slept less than six hours a night, leading to the discovery of a rare gene mutation that regulates circadian rhythms [1] - The latest findings highlight a specific mutation in the salt-inducible kinase 3 (SIK3) gene, which affects neuronal signaling in the brain and is linked to reduced sleep duration [2] Gene Mutation Findings - The SIK3 gene mutation, specifically the N783Y point mutation, was confirmed through DNA analysis and subsequent experiments on mice, which showed a reduction in sleep time by approximately 31 minutes compared to normal mice [2] - This mutation is most active at synapses in the brain, suggesting that it may enable the body to enter a "nighttime maintenance mode," allowing for efficient cellular repair and hormone replenishment without the need for extended sleep [2] - Ongoing research aims to uncover how these genetic variations influence sleep regulation, potentially leading to a better understanding of sleep mechanisms in individuals with naturally shorter sleep durations [2]