Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries

Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries

Eva Bagyinszky,1,* Young Chul Youn,2 Seong Soo A An,1 SangYun Kim3,* 1Department of BioNano Technology, Gachon University, Gyeonggi-do, 2Department of Neurology, College of Medicine, Chung-Ang University, Seoul, 3Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South...

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Autores principales: Bagyinszky E, Youn YC, An SSA, Kim S
Formato: article
Lenguaje:EN
Publicado: Dove Medical Press 2016
Materias:
mutation
Asia
presenilin
amyloid precursor protein
genetics
Geriatrics
RC952-954.6
Acceso en línea:https://doaj.org/article/308b24e6a757482ca889fea54527867d
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spelling oai:doaj.org-article:308b24e6a757482ca889fea54527867d2021-12-02T00:30:05ZMutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries1178-1998https://doaj.org/article/308b24e6a757482ca889fea54527867d2016-10-01T00:00:00Zhttps://www.dovepress.com/mutations-associated-with-early-onset-alzheimerrsquos-disease-discove-peer-reviewed-article-CIAhttps://doaj.org/toc/1178-1998Eva Bagyinszky,1,* Young Chul Youn,2 Seong Soo A An,1 SangYun Kim3,* 1Department of BioNano Technology, Gachon University, Gyeonggi-do, 2Department of Neurology, College of Medicine, Chung-Ang University, Seoul, 3Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Korea *These authors contributed equally to this work 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, and PSEN2) that were discovered in Asian countries. Most of the EOAD-associated mutations have been detected in PSEN1, and several novel PSEN1 mutations were recently identified in patients from various parts of the world, including Asia. Until 2014, no PSEN2 mutations were found in Asian patients; however, emerging studies from Korea and the People’s Republic of China discovered probably pathogenic PSEN2 mutations. 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. Keywords: mutation, Asia, presenilin, amyloid precursor protein, geneticsBagyinszky EYoun YCAn SSAKim SDove Medical PressarticlemutationAsiapresenilinamyloid precursor proteingeneticsGeriatricsRC952-954.6ENClinical Interventions in Aging, Vol Volume 11, Pp 1467-1488 (2016)
institution DOAJ
collection DOAJ
language EN
topic mutation
Asia
presenilin
amyloid precursor protein
genetics
Geriatrics
RC952-954.6
spellingShingle mutation
Asia
presenilin
amyloid precursor protein
genetics
Geriatrics
RC952-954.6
Bagyinszky E
Youn YC
An SSA
Kim S
Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries
description Eva Bagyinszky,1,* Young Chul Youn,2 Seong Soo A An,1 SangYun Kim3,* 1Department of BioNano Technology, Gachon University, Gyeonggi-do, 2Department of Neurology, College of Medicine, Chung-Ang University, Seoul, 3Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Korea *These authors contributed equally to this work 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, and PSEN2) that were discovered in Asian countries. Most of the EOAD-associated mutations have been detected in PSEN1, and several novel PSEN1 mutations were recently identified in patients from various parts of the world, including Asia. Until 2014, no PSEN2 mutations were found in Asian patients; however, emerging studies from Korea and the People’s Republic of China discovered probably pathogenic PSEN2 mutations. 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. Keywords: mutation, Asia, presenilin, amyloid precursor protein, genetics
format article
author Bagyinszky E
Youn YC
An SSA
Kim S
author_facet Bagyinszky E
Youn YC
An SSA
Kim S
author_sort Bagyinszky E
title Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries
title_short Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries
title_full Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries
title_fullStr Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries
title_full_unstemmed Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries
title_sort mutations, associated with early-onset alzheimer’s disease, discovered in asian countries
publisher Dove Medical Press
publishDate 2016
url https://doaj.org/article/308b24e6a757482ca889fea54527867d
work_keys_str_mv AT bagyinszkye mutationsassociatedwithearlyonsetalzheimerrsquosdiseasediscoveredinasiancountries
AT younyc mutationsassociatedwithearlyonsetalzheimerrsquosdiseasediscoveredinasiancountries
AT anssa mutationsassociatedwithearlyonsetalzheimerrsquosdiseasediscoveredinasiancountries
AT kims mutationsassociatedwithearlyonsetalzheimerrsquosdiseasediscoveredinasiancountries
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