PSEN1和PSEN2环状RNA中阿尔茨海默病变体的存在。

IF 3.1 3区医学 Q2 NEUROSCIENCES

Journal of Alzheimer's Disease Pub Date : 2025-06-16 DOI:10.1177/13872877251350112

Ian P Johnson, Tia M Peterson, Kathryn Gudsnuk, C Dirk Keene, Thomas D Bird, Suman Jayadev, Paul N Valdmanis, Meredith M Course

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引用次数: 0

摘要

环状rna （circRNAs）正在成为阿尔茨海默病（AD）发病机制研究的一个有希望的对象。circRNAs的表达差异与疾病相关；然而，到目前为止尚未观察到致病性变异的存在。本研究中，研究人员检测了家族性AD患者前额叶皮层中来自两个AD相关基因——早老素1 （PSEN1）和早老素2 （PSEN2）的circRNAs，发现了来自PSEN1 （I143T, S212Y, M146L）和PSEN2 （N141I）的四种circRNAs变体。PSEN1和PSEN2环状rna致病性变异的发现标志着确定它们是否在AD病因学中发挥作用的第一步。

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Presence of Alzheimer's disease variants in circular RNA of PSEN1 and PSEN2.

Circular RNAs (circRNAs) are emerging as a promising object of study in Alzheimer's disease (AD) pathogenesis. Expression differences in circRNAs have been correlated with disease; however, the presence of pathogenic variants has not been observed until now. Here, we examine circRNAs derived from two AD-related genes, presenilin 1 (PSEN1) and presenilin 2 (PSEN2), in the prefrontal cortex from individuals with familial AD, identifying four variants in circRNAs derived from PSEN1 (I143T, S212Y, M146L) and PSEN2 (N141I). The discovery of pathogenic variants in PSEN1 and PSEN2 circRNAs marks a first step in determining whether they play a role in AD etiology.

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来源期刊

Journal of Alzheimer's Disease 医学-神经科学

CiteScore

6.40

自引率

7.50%

发文量

1327

审稿时长

2 months

期刊介绍： The Journal of Alzheimer''s Disease (JAD) is an international multidisciplinary journal to facilitate progress in understanding the etiology, pathogenesis, epidemiology, genetics, behavior, treatment and psychology of Alzheimer''s disease. The journal publishes research reports, reviews, short communications, hypotheses, ethics reviews, book reviews, and letters-to-the-editor. The journal is dedicated to providing an open forum for original research that will expedite our fundamental understanding of Alzheimer''s disease.