小柯机器人

近日，美国哈佛医学院Yakeel T. Quiroz、Joseph F. Arboleda-Velasquez以及亚利桑那大学Eric M. Reiman等研究人员，报道了一例APOE3 Christchurch纯合子基因突变对常染色体显性遗传阿尔茨海默症具有抵抗性的病例。

2019年11月4日，《自然—医学》在线发表了这一研究。

研究人员从世界上最大的常染色体显性遗传阿尔茨海默症家族中鉴定出一种PSEN1（早老素1）突变携带者，该患者直到70岁时才出现轻度认知障碍，距预期的临床发病年龄已过三十年。该个体有两个拷贝的APOE3 Christchurch (R136S)突变、异常高的脑淀粉样蛋白水平以及有限的tau和神经退行性测量值。

这些发现对APOE在阿尔茨海默氏病的发病机理、治疗和预防中的作用具有重要意义。

附：英文原文

Title: Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report

Author: Joseph F. Arboleda-Velasquez, Francisco Lopera, Michael OHare, Santiago Delgado-Tirado, Claudia Marino, Natalia Chmielewska, Kahira L. Saez-Torres, Dhanesh Amarnani, Aaron P. Schultz, Reisa A. Sperling, David Leyton-Cifuentes, Kewei Chen, Ana Baena, David Aguillon, Silvia Rios-Romenets, Margarita Giraldo, Edmarie Guzmn-Vlez, Daniel J. Norton, Enmanuelle Pardilla-Delgado, Arabiye Artola, Justin S. Sanchez, Juliana Acosta-Uribe, Matthew Lalli, Kenneth S. Kosik, Matthew J. Huentelman, Henrik Zetterberg, Kaj Blennow, Rebecca A. Reiman, Ji Luo, Yinghua Chen, Pradeep Thiyyagura, Yi Su, Gyungah R. Jun, Marcus Naymik, Xiaowu Gai, Moiz Bootwalla, Jianling Ji, Lishuang Shen, John B. Miller, Leo A. Kim, Pierre N. Tariot, Keith A. Johnson, Eric M. Reiman, Yakeel T. Quiroz

Issue&Volume: 2019-11-04

Abstract: We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer’s disease.

DOI: 10.1038/s41591-019-0611-3

Source: https://www.nature.com/articles/s41591-019-0611-3

Nature Medicine：《自然—医学》，创刊于1995年。隶属于施普林格·自然出版集团，最新IF：87.241
官方网址：https://www.nature.com/nm/
投稿链接：https://mts-nmed.nature.com/cgi-bin/main.plex