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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

2010Journal article Open access
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dc.contributor.authorGuerreiro, RJ
dc.contributor.authorBaquero, M
dc.contributor.authorBlesa, R
dc.contributor.authorBoada, M
dc.contributor.authorBras, JM
dc.contributor.authorBullido, MJ
dc.contributor.authorCalado, A
dc.contributor.authorCrook, R
dc.contributor.authorFerreira, C
dc.contributor.authorMachado, A
dc.date.accessioned2012-05-24T17:54:50Z
dc.date.available2012-05-24T17:54:50Z
dc.date.issued2010
dc.description.abstractMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65 years) 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 non-synonymous 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.por
dc.identifier.citationNeurobiol Aging. 2010;31(5):725-31.por
dc.identifier.urihttp://hdl.handle.net/10400.23/248
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherElsevierpor
dc.relationMOLECULAR GENETICS OF PARKINSONISM
dc.relationGENETICS OF TAUOPATHIES: THE ROLE OF MAPT
dc.subjectDoença de Alzheimerpor
dc.subjectPresenilina 1por
dc.subjectPredisposição Genética para Doençapor
dc.subjectEspanhapor
dc.subjectPortugalpor
dc.titleGenetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APPpor
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleMOLECULAR GENETICS OF PARKINSONISM
oaire.awardTitleGENETICS OF TAUOPATHIES: THE ROLE OF MAPT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F29647%2F2006/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F27442%2F2006/PT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isProjectOfPublicationb413553b-c08a-4da7-9693-613ef2466ff0
relation.isProjectOfPublication65f93e5a-49cc-4fce-8e61-33a5affabc3a
relation.isProjectOfPublication.latestForDiscoveryb413553b-c08a-4da7-9693-613ef2466ff0

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