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Title: Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
Authors: Guerreiro, Rita João 
Baquero, Miquel 
Blesa, Rafael 
Boada, Mercè 
Brás, José Miguel 
Bullido, Maria. J. 
Calado, Ana 
Crook, Richard 
Ferreira, Carla
Frank, Ana 
Gómez-Isla, Teresa 
Hernández, Isabel 
Lleó, Alberto 
Machado, Álvaro 
Martínez- Lage, Pablo 
Masdeu, José 
Molina-Porcel, Laura 
Molinuevo, José L. 
Pastor, Pau 
Pérez-Tur, Jordi 
Relvas, Rute 
Oliveira, Catarina Resende 
Ribeiro, Maria Helena 
Rogaeva, Ekaterina 
Sá, Alfredo 
Samaranch, Lluís 
Sánchez-Valle, Raquel 
Santana, Isabel 
Tàrraga, Lluís 
Valdivieso, Fernando 
Singleton, Andrew 
Hardy, John 
Clarimón, Jordi 
Keywords: Early-onset Alzheimer’s disease; Presenilins; APP; Mutations
Issue Date: 2010
Publisher: Elsevier
Citation: GUERREIRO, Rita João [et. al.] - Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. "Neurobiology of Aging". ISSN 0197-4580. 31:5 (2010) 725-731
Serial title, monograph or event: Neurobiology of Aging
Volume: 31
Issue: 5
Abstract: Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found three novel mutations in PSEN1, one novel mutation in PSEN2, and a novel mutation in the APP gene. Four previously described mutations in PSEN1 were also found. The same analysis was carried in 121 elderly healthy controls from the Iberian peninsular, and a set of 130 individuals from seven African populations belonging to the Centre d’Etude du Polymorphisme Humain-Human Genome Diversity Panel (CEPH-HGDP), in order to determine the extent of normal variability in these genes. Interestingly, in the latter series, we found five new nonsynonymous changes in all three genes and a presenilin 2 variant (R62H) that has been previously related to AD. In some of these mutations, the pathologic consequence is uncertain and needs further investigation. To address this question we propose and use a systematic algorithm to classify the putative pathology of AD mutations.
ISSN: 0197-4580
DOI: 10.1016/j.neurobiolaging.2008.06.012
Rights: openAccess
Appears in Collections:I&D CNC - Artigos em Revistas Internacionais

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