Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease

被引：31

作者：

Gao, Ying ^{[1
]}

Ren, Ru-Jing ^{[1
]}

Zhong, Zi-Lin ^{[2
,3
]}

Dammer, Eric ^{[4
]}

Zhao, Qian-Hua ^{[5
,6
]}

Shan, Shan ^{[7
,8
]}

Zhou, Zheng ^{[7
,8
]}

Li, Xia ^{[9
]}

Zhang, Yue-Qi ^{[1
]}

Cui, Hai-Lun ^{[1
]}

Hu, Yong-Bo ^{[1
]}

Chen, Sheng-Di ^{[1
]}

Chen, Jian-Jun ^{[2
,3
]}

Guo, Qi-Hao ^{[5
,6
]}

Wang, Gang ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp Affiliated, Dept Neurol & Neurosci Inst, Shanghai 200025, Peoples R China

[2] Tongji Univ, Sch Med, Shanghai Peoples Hosp 10, Shanghai 200072, Peoples R China

[3] Tongji Univ, Sch Med, Dept Med Genet, Shanghai 200072, Peoples R China

[4] Emory Univ, Sch Med, Ctr Neurodegenerat Dis, Dept Biochem, Atlanta, GA USA

[5] Fudan Univ, WHO Collaborating Ctr Res & Training Neurosci, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China

[6] Fudan Univ, WHO Collaborating Ctr Res & Training Neurosci, Huashan Hosp, Inst Neurol, Shanghai, Peoples R China

[7] Chinese Acad Sci, Inst Biophys, Natl Lab Biomacromol, Beijing, Peoples R China

[8] Univ Chinese Acad Sci, Beijing, Peoples R China

[9] Shanghai Jiao Tong Univ, Sch Med, Dept Geriatr Psychiat, Shanghai Mental Hlth Ctr,Alzheimers Dis & Related, Shanghai, Peoples R China

来源：

NEUROBIOLOGY OF AGING | 2019年 / 77卷

基金：

国家重点研发计划; 中国国家自然科学基金;

关键词：

Familial Alzheimer's disease; APP; PSEN1; PSEN2; Mutation; ONSET; GENES; DIAGNOSIS; DEMENTIA;

D O I：

10.1016/j.neurobiolaging.2019.01.018

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Causative mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2) account for a majority of cases of familial Alzheimer disease (FAD) inherited in an autosomal-dominant pattern. For the sake of characterizing mutations, index patients from 148 families with FAD were enrolled from mainland China. Sanger sequencing of the genes APP, PSEN1, and PSEN2 was performed to characterize the mutation spectrum of the Chinese population. Thirteen of 148 (8.8%) individuals had possible pathogenic APP, PSEN1, or PSEN2 variants, including 2 (15.4%) APP variants, 8 (61.5%) PSEN1 variants, and 3 (23.1%) PSEN2 variants. PSEN1 variants represented the largest proportion in Chinese FAD, and PSEN2 variants are responsible for late-onset FAD in China. Analysis of genetic-clinical correlations permitted the conclusion that FAD phenotypes were mainly influenced by specific genetic defects. (C) 2019 Elsevier Inc. All rights reserved.

引用

页码：154 / 157

页数：4

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