来自卡内基梅隆大学、匹兹堡大学和华盛顿大学的研究团队发现，阿尔茨海默病患者脑细胞中DNA的三维空间组织结构遭到破坏，改变了重要基因的启闭方式。1该研究成果已于2026年9月13日发表在《Science》期刊上，聚焦患者前额皮质脑区的基因组异常。1
研究发现患者脑细胞中基因组的三维结构与健康人群存在显著差异，包括区间边界界定不清晰、基因间相互作用减少以及"区间融合增加"现象，即基因组活跃区和非活跃区的边界变得模糊。1研究团队采用GAGE-seq技术结合空间转录组学和深度学习模型Hicformer进行分析，研究对象来自长期痴呆研究的捐献者，包括阿尔茨海默病患者和健康对照组。1
卡内基梅隆大学的Jian Ma教授指出，"阿尔茨海默病无法一次性理解一个层面"。1研究团队成员Hansruedi Mathys表示，该疾病目前影响美国700万人，患病人数仍在持续增长。1这项由美国国立卫生研究院（NIH）资助的研究为理解和治疗阿尔茨海默病提供了新的研究方向。1
Researchers from Carnegie Mellon University, the University of Pittsburgh, and the University of Washington have identified disruptions in the three-dimensional organization of DNA within multiple brain cell types of Alzheimer's disease patients, which alters how critical genes are turned on and off 1. The study, published in Science on September 13, 2026, reveals that the three-dimensional structure of the genome in patients' brain cells differs significantly from that of healthy individuals, characterized by unclear region boundaries and reduced interactions between genes 1.
The research focused on the prefrontal cortex region of the brain and employed GAGE-seq technology combined with spatial transcriptomics and the deep learning model Hicformer 1. The team analyzed brain tissue samples from long-term dementia research donors, including both Alzheimer's patients and healthy control subjects 1. A key finding was the increase in "region fusion," a phenomenon in which the boundaries between active and inactive areas of the genome become blurred 1. According to Jian Ma, a professor involved in the work, "Alzheimer's disease cannot be understood through a single layer" 1. The research was supported by funding from the U.S. National Institutes of Health (NIH) 1.
Hansruedi Mathys noted that the disease currently affects 7 million people in the United States, with numbers continuing to rise 1. This discovery of altered genomic architecture offers a new research direction for understanding and treating Alzheimer's disease 1.
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