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Apolipoprotein E isoforms and susceptibility to genetic generalized epilepsies

2020-09Journal article Restricted access
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dc.contributor.authorChaves, João
dc.contributor.authorMartins-Ferreira, Ricardo
dc.contributor.authorCarvalho, Cláudia
dc.contributor.authorBettencourt, Andreia
dc.contributor.authorBrás, Sandra
dc.contributor.authorChorão, Rui
dc.contributor.authorFreitas, Joel
dc.contributor.authorSamões, Raquel
dc.contributor.authorLopes, João
dc.contributor.authorRamalheira, João
dc.contributor.authorSilva, Berta
dc.contributor.authorCosta, Paulo
dc.contributor.authorMartins Da Silva, António
dc.contributor.authorLeal, Bárbara
dc.date.accessioned2021-03-26T11:31:54Z
dc.date.available2021-03-26T11:31:54Z
dc.date.issued2020-09
dc.description.abstractBackground: Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE e4 is an isoform of ApoE with altered function, and was previously associated with early onset epilepsy and refractoriness, both in animal models and in patients with focal epilepsies. There is a limited knowledge on ApoE’s role in Genetic Generalized Epilepsies (GGE). Aim: To determine if ApoE isoforms are risk factors for GGE development. Methods: A group of 337 GGE patients (193 F, 144 M, 33.6 ± 14.2 years) was compared with a group of 342 healthy individuals in a case-control genetic association study. ApoE genotyping was performed using PCR-RFLP. Results: The genotypic frequency of ApoE e3/e2 was lower in GGE patients relative to controls (6.5% in GGE vs. 11.7% in controls, p = 0.019, OR (95% CI) = 0.53 (0.305–0.905). No associations with other clinical data such as photosensitivity or age at disease onset were observed. Conclusion: Our results show that ApoE e3/e2 genotype may be a protective factor for GGE development. There is evidence that this genotype could be neuroprotective, preventing oxidative damage and promoting neuronal survival. Although replication studies are warranted, our data suggest that ApoE isoforms have a role in epileptogenic mechanisms regardless of the specific epileptic manifestations.pt_PT
dc.description.sponsorshipPartially supported by a Tecnifar BICEpt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInt J Neurosci. 2020 Sep;130(9):892-897. doi: 10.1080/00207454.2019.1709840. Epub 2020 Jan 6pt_PT
dc.identifier.doi10.1080/00207454.2019.1709840pt_PT
dc.identifier.issn0020-7454
dc.identifier.urihttp://hdl.handle.net/10400.18/7603
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherTaylor and Francispt_PT
dc.relation.publisherversionhttps://www.tandfonline.com/doi/abs/10.1080/00207454.2019.1709840?journalCode=ines20pt_PT
dc.subjectEpilepsypt_PT
dc.subjectGeneticspt_PT
dc.subjectApoEpt_PT
dc.subjectApolipoprotein Ept_PT
dc.subjectGGEpt_PT
dc.subjectJMEpt_PT
dc.subjectGenetic Generalized Epilepsiespt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleApolipoprotein E isoforms and susceptibility to genetic generalized epilepsiespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage897pt_PT
oaire.citation.issue9pt_PT
oaire.citation.startPage892pt_PT
oaire.citation.titleInternational Journal of Neurosciencept_PT
oaire.citation.volume130pt_PT
person.familyNameChaves
person.familyNameBettencourt
person.familyNameSilva
person.familyNamede Castro Pinho e Costa
person.familyNameMartins da Silva
person.familyNameLeal
person.givenNameJoão
person.givenNameAndreia
person.givenNameBerta
person.givenNamePaulo Manuel
person.givenNameAntónio
person.givenNameBárbara
person.identifierB-4392-2008
person.identifier.ciencia-idE211-03FB-612F
person.identifier.ciencia-id6A17-F7BE-D4BC
person.identifier.ciencia-id1511-1F97-9455
person.identifier.orcid0000-0001-5511-5137
person.identifier.orcid0000-0001-6579-5068
person.identifier.orcid0000-0001-6125-7000
person.identifier.orcid0000-0003-1364-5724
person.identifier.orcid0000-0003-0936-4719
person.identifier.ridO-6038-2014
person.identifier.scopus-author-id24780579700
person.identifier.scopus-author-id56124425300
person.identifier.scopus-author-id14023271500
person.identifier.scopus-author-id6603590404
person.identifier.scopus-author-id35170382000
rcaap.embargofctAcesso de acordo com página web do editor da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
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