Pathogenic PSEN1 Thr119Ile mutation in two Korean patients with early-onset Alzheimer's disease
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Bagyinszky E. | - |
dc.contributor.author | Lee H. | - |
dc.contributor.author | Pyun J.M. | - |
dc.contributor.author | Suh J. | - |
dc.contributor.author | Kang M.J. | - |
dc.contributor.author | Vo V.G. | - |
dc.contributor.author | An S.S.A. | - |
dc.contributor.author | Park K.H. | - |
dc.contributor.author | Kim S. | - |
dc.date.available | 2020-08-10T00:36:14Z | - |
dc.date.created | 2020-07-02 | - |
dc.date.issued | 2020-06 | - |
dc.identifier.issn | 2075-4418 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/76187 | - |
dc.description.abstract | We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) in two unrelated Korean patients, diagnosed with early onset Alzheimer's disease (EOAD). The first patient presented with memory decline when she was 64 years old. Magnetic resonance imaging (MRI) scans showed diffuse atrophy in the fronto-parietal regions. In addition, 18F-fludeoxyglucose positron emission tomography (FDG-PET) showed reduced tracer uptake in the parietal and temporal cortices, bilaterally. The second patient developed memory dysfunction at the age of 49, and his mother was also affected. Amyloid positron emission tomography (PET) was positive, but MRI scans did not reveal any atrophy. Targeted NGS and Sanger sequencing identified a heterozygous C to T exchange in PSEN1 exon 5 (c.356C>T), resulting in a p.Thr119Ile mutation. The mutation is located in the conserved HL-I loop, where several Alzheimer's disease (AD) related mutations have been described. Structure analyses suggested that Thr119Ile mutation may result in a significant change inside conservative loop. Additional in vitro studies are needed to estimate the role of the PSEN1 Thr119Ile in AD disease progression. © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | MDPI AG | - |
dc.relation.isPartOf | Diagnostics | - |
dc.title | Pathogenic PSEN1 Thr119Ile mutation in two Korean patients with early-onset Alzheimer's disease | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000551265800001 | - |
dc.identifier.doi | 10.3390/diagnostics10060405 | - |
dc.identifier.bibliographicCitation | Diagnostics, v.10, no.6 | - |
dc.description.isOpenAccess | N | - |
dc.identifier.scopusid | 2-s2.0-85086846795 | - |
dc.citation.title | Diagnostics | - |
dc.citation.volume | 10 | - |
dc.citation.number | 6 | - |
dc.contributor.affiliatedAuthor | Bagyinszky E. | - |
dc.contributor.affiliatedAuthor | Vo V.G. | - |
dc.contributor.affiliatedAuthor | An S.S.A. | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | Alzheimer&apos | - |
dc.subject.keywordAuthor | s disease | - |
dc.subject.keywordAuthor | Next generation sequencing | - |
dc.subject.keywordAuthor | Presenilin-1 | - |
dc.subject.keywordAuthor | Thr119Ile mutation | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
1342, Seongnam-daero, Sujeong-gu, Seongnam-si, Gyeonggi-do, Republic of Korea(13120)031-750-5114
COPYRIGHT 2020 Gachon University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.