title: Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
abstract: Alzheimer's disease (AD), the most common form of senile dementia, is a genetically complex disorder. In most Asian countries, the population and the number of AD patients are growing rapidly, and the genetics of AD has been extensively studied, except in Japan. However, recent studies have been started to investigate the genes and mutations associated with AD in Korea, the People's Republic of China, and Malaysia. This review describes all of the known mutations in three early-onset AD (EOAD) causative genes (APP,PSEN1, andPSEN2) that were discovered in Asian countries. Most of the EOAD-associated mutations have been detected inPSEN1, and several novelPSEN1mutations were recently identified in patients from various parts of the world, including Asia. Until 2014, noPSEN2mutations were found in Asian patients; however, emerging studies from Korea and the People's Republic of China discovered probably pathogenicPSEN2mutations. Since several novel mutations were discovered in these three genes, we also discuss the predictions on their pathogenic nature. This review briefly summarizes genome-wide association studies of late-onset AD and the genes that might be associated with AD in Asian countries. Standard sequencing is a widely used method, but it has limitations in terms of time, cost, and efficacy. Next-generation sequencing strategies could facilitate genetic analysis and association studies. Genetic testing is important for the accurate diagnosis and for understanding disease-associated pathways and might also improve disease therapy and prevention.
authors: Department of BioNano Technology, Gachon University, Gyeonggi-do.
authors: Eva
authors: E
authors: Bagyinszky
authors: Department of Neurology, College of Medicine, Chung-Ang University, Seoul.
authors: Young Chul
authors: YC
authors: Youn
authors: Department of BioNano Technology, Gachon University, Gyeonggi-do.
authors: Seong Soo A
authors: SS
authors: An
authors: Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Korea.
authors: SangYun
authors: S
authors: Kim
mesh_terms: D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001208:Asia / Q000453:epidemiology; D044466:Asian People / Q000235:genetics*; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D006801:Humans; D009154:Mutation; D053764:Presenilin-1 / Q000235:genetics*; D053766:Presenilin-2 / Q000235:genetics*
chemical_list: C545487:APP protein, human; D016564:Amyloid beta-Protein Precursor; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2
keywords: Asia; amyloid precursor protein; genetics; mutation; presenilin