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Carnegie Mellon AI · 2026/7/23 06:00:00

AI, Single-Cell Technology Reveal How 3D Genome Differs in People With Alzheimer's Disease
AI 中文解读
阿尔茨海默病的病因又有了新线索!卡内基梅隆大学联合匹兹堡大学和华盛顿大学的研究人员发现,患者脑细胞内部的“3D基因组”排列方式与健康人截然不同。这一发现借助了单细胞技术和深度学习模型,首次从三维空间层面揭示了疾病背后的生物机制。
通俗点说,我们的DNA就像一本超长说明书,平时被折叠成精巧的三维结构存放在细胞核里。阿尔茨海默病患者某些脑细胞里的这种折叠方式出了岔子,导致本该正常工作的基因“打不开”或“关不掉”,从而影响脑组织功能。研究团队利用单细胞技术逐个分析细胞,再结合AI模型从海量数据中找出规律,这才看清了基因折叠与疾病之间的关联。
这项突破对普通人意义重大。它意味着阿尔茨海默病的治疗可能不再只盯着“淀粉样蛋白”这一个靶点,而是从基因折叠入手,开发能纠正三维结构的新药。未来患者或许能通过更精准的早期筛查和个性化治疗延缓病情,让千万家庭看到更多希望。
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July 23, 2026
AI, Single-Cell Technology Reveal How 3D Genome Differs in People With Alzheimer's Disease
By Marylee WilliamsMedia InquiriesAaron Aupperlee
Chief Marketing and Communications Officer, School of Computer Science
aaupperlee@cmu.edu
412-268-9068
Researchers from Carnegie Mellon University's School of Computer Science, the University of Pittsburgh School of Medicine and the University of Washington shed new light on Alzheimer's disease that could point to improved directions for treatment.In a paper published in Science, researchers from the three institutions and their collaborators show that the 3D genome architecture is organized differently in certain brain cells from people with Alzheimer's disease, uncovering a previously underexplored layer of the disease's biology. The research team linked genome folding to gene activity and brain tissue organization in Alzheimer's disease through single-cell technology, spatial mapping of brain tissue and a new deep learning model."Alzheimer's disease cannot be understood one layer at a time," said Jian Ma, the Ray and Stephanie Lane Professor of Computational Biology in CMU's School of Computer Science, who led and supervised the study. "The genome's 3D structure is a fundamental regulatory layer that helps to connect DNA sequence to gene activity. By integrating genome folding, cell state and tissue context, we can move beyond cataloging disease-associated changes toward understanding how they fit together and which mechanisms to test next."In a paper published in Science, computational biology researchers including (l-r) Jian Ma, Yang Zhang and Xinyue Lu shed new light on Alzheimer's disease that could lead to improved treatment options.To build this multiscale view, researchers analyzed postmortem tissue from the prefrontal cortex obtained from individuals with and without Alzheimer's disease who participated in a long-term study on dementia and donated their brains to science after death. The team used GAGE-seq, which measures gene expression and 3D genome contacts in the same cell, and integrated these measurements with spatial transcriptomic maps of intact tissue. To
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