Core Viewpoint - The article highlights significant research published in the journal Cell, with a focus on groundbreaking studies from Chinese scholars in various fields, including Alzheimer's disease treatment, cartilage regeneration, and innovative RNA-protein interaction technologies [2]. Group 1: Alzheimer's Disease Research - A study by researchers from Gladstone Institutes and UCSF identified two FDA-approved cancer drugs, letrozole and irinotecan, that can reverse gene expression changes associated with Alzheimer's disease, significantly improving memory and reducing pathological features in a mouse model [4][7]. Group 2: Cartilage Regeneration - Research from Tongji University and Hainan Medical University discovered Procr+ chondroprogenitors that are sensitive to mechanical stimuli, crucial for maintaining cartilage homeostasis and promoting regeneration after joint injury, indicating potential for treating knee diseases like osteoarthritis [9][12]. Group 3: Prime Editing for Neurological Disorders - The Broad Institute's study demonstrated the use of prime editing technology in mice to correct common ATP1A3 gene mutations associated with alternating hemiplegia of childhood, leading to significant improvements in clinical symptoms and lifespan [14][17]. Group 4: RNA-Protein Interaction Technology - A new RNA-binding protein identification technique called SPIDR was developed, allowing for the analysis of multiple RNA-binding proteins' binding sites, which could enhance understanding of RNA biology and mechanisms of translational suppression under cell stress [19][21]. Group 5: Post-Stroke Brain Inflammation - Research from Johns Hopkins University revealed that the mast cell receptor Mrgprb2/MRGPRX2 mediates brain inflammation after a stroke, and inhibiting this receptor can reduce inflammation and improve neurological outcomes in mice [23][25]. Group 6: Aging Proteome Atlas - A comprehensive study by the Chinese Academy of Sciences constructed a proteome aging atlas across a 50-year lifespan, identifying aging trajectories and key proteins like GAS6 that drive vascular and systemic aging [27].

撰文丨王聪 编辑丨王多鱼 排版丨水成文 儿童交替性偏瘫 （ Alternating Hemiplegia of Childhood， AHC） 是一种神经发育障碍，通常在出生后的前 18 个月内出现，表现为反复发作的阵发性症状， 包括偏瘫 （身体一侧瘫痪） 、肌张力障碍 （疼痛性不自主肌肉收缩） 、异常眼球运动和癫痫发作，患者还会表现出非阵发性肌张力低下、发育迟缓以及智力障 碍。AHC 极为罕见，据估计每 100 万人中仅有 1 例，目前尚无能够改变疾病进程的治疗方法。 大约 70% 的 AHC 病例与 ATP1A3 基因的致病突变有关 ，该基因编码 钠钾泵 （Na + /K + -ATP酶） 的 α3 亚基， 其对神经元功能至关重要， 功能异常会导 致神经元过度兴奋或能量代谢失衡 ，引发发作性症状与神经发育缺陷。尽管已报道了 50 多种 AHC 相关 ATP1A3 致病突变，但 ATP1A3 的 D801N、E815K 和 G947R 这三种突变占 65% 以上，发生率分别为 36%、22%和 9%。 之前的研究揭示了 AHC 相关 ATP1A3 突变的 显性负效应致病机制 （Dominant-Negati ...