A patient with early-onset Alzheimer's disease with a novel PSEN1 p.Leu424Pro mutation.
Early-onset Alzheimer's disease
L424P
Mutation
Novel
PSEN1
Journal
Neurobiology of aging
ISSN: 1558-1497
Titre abrégé: Neurobiol Aging
Pays: United States
ID NLM: 8100437
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
01
03
2019
revised:
14
05
2019
accepted:
18
05
2019
pubmed:
13
7
2019
medline:
5
8
2020
entrez:
13
7
2019
Statut:
ppublish
Résumé
"Presenilin 1" (PSEN1) gene mutations are the major known genetic cause of early-onset Alzheimer's disease. Herein, we report a novel heterozygous PSEN1 mutation (p.Leu424Pro) in a Turkish patient presenting with deterioration of short-term memory and visuospatial skills starting at the age of 47 years. This novel mutation is located in the conserved residue of transmembrane domain 8 coded by exon 12. At the protein level, this mutation caused a disruption in the alpha helix structure of PSEN1. The structural and possible functional consequences of the mutation suggest that it has probably a pathogenic effect, which in turns had a potential role in the development of Alzheimer's disease in our patient.
Identifiants
pubmed: 31296348
pii: S0197-4580(19)30170-8
doi: 10.1016/j.neurobiolaging.2019.05.014
pii:
doi:
Substances chimiques
PSEN1 protein, human
0
Presenilin-1
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
238.e1-238.e4Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.