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Genetic modulation of stroke in children with sickle cell anaemia

2019-04Conference object Open access
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dc.contributor.authorSilva, Marisa
dc.contributor.authorVargas, Sofia
dc.contributor.authorCoelho, Andreia
dc.contributor.authorMendonça, Joana
dc.contributor.authorVieira, Luís
dc.contributor.authorKjollerstrom, Paula
dc.contributor.authorMaia, Raquel
dc.contributor.authorSilva, Rita
dc.contributor.authorDias, Alexandra
dc.contributor.authorFerreira, Teresa
dc.contributor.authorMorais, Anabela
dc.contributor.authorMota Soares, Isabel
dc.contributor.authorLavinha, João
dc.contributor.authorFaustino, Paula
dc.date.accessioned2020-05-26T08:10:28Z
dc.date.available2020-05-26T08:10:28Z
dc.date.issued2019-04
dc.description.abstractSickle cell anaemia (SCA) is an autosomal recessive genetic disease that leads to the synthesis of haemoglobin S (HbS). The pathophysiology of the disease is centred on HbS polymerization inside the red blood cells, which become sickle-shaped (SSRBCs), rigid, viscous and adherent-prone to the vascular endothelium, favouring the occurrence of chronic haemolysis and vaso-occlusion. The main vascular problems of SCA arise from several pathways including endothelial dysfunction and nitric oxide (NO) metabolism. Children with SCA have a much higher risk (11% by age 20 years) of developing stroke or silent cerebral infarcts (up to 37%) than the general paediatric population. Abnormal interactions between SSRBCs and the cerebral arterial endothelium lead to endothelial injury, vaso-occlusion and tissue ischemia and result in cerebral vasculopathy (CVA) through a yet unknown pathophysiological mechanism. Current risk screening strategies rely mainly on imaging techniques (transcranial Doppler ultrasonography and magnetic resonance imaging) and children with altered results undergo regular blood transfusion and/or hydroxyurea therapy to reduce stroke risk/recurrence. However, we need more specific/sensitive biomarkers for stroke prediction/prognosis. Genetic modulators may be paramount in SCA pathophysiology and in CVA severity. They include variants in VCAM1 (endothelial dysfunction), ITGA4 (cell-cell adhesion), and NOS3 (nitric oxide metabolism. The main goals of this work are: a) improve the knowledge on the genetic architecture of paediatric cerebral vasculopathy in SCA; b) assessing the consequences of those genetic variants on gene expression/protein function; c) identify genotypic/phenotypic markers of SCA sub-phenotypes; and d) analyse their potential as genetic modulators of disease severity. This would be crucial in assessing potential pharmacological targets specifically aimed to the vascular system and instrumental for the design of novel preventive, prophylactic or therapeutic strategies.pt_PT
dc.description.sponsorshipINSA_202DGH72 and ISAMBpt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6811
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectSickle Cell Anaemiapt_PT
dc.subjectDrepanocitosept_PT
dc.subjectAnemia das Células Falciformespt_PT
dc.subjectHemoglobinopatiaspt_PT
dc.subjectAVCpt_PT
dc.subjectModificadores Genéticospt_PT
dc.subjectVasculopatia cerebralpt_PT
dc.subjectMedicina Personalizadapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectDoenças Raraspt_PT
dc.subjectGenética Humanapt_PT
dc.titleGenetic modulation of stroke in children with sickle cell anaemiapt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceLisboa, Portugalpt_PT
oaire.citation.titlePhD Open Days 2019 – Imponente & “Fora da Caixa”, Instituto Superior Técnico, 9-10 abril 2019pt_PT
person.familyNameFaustino
person.givenNamePaula
person.identifier.ciencia-idF01A-353A-433E
person.identifier.orcid0000-0002-6269-4867
person.identifier.ridM-3519-2014
person.identifier.scopus-author-id8158641100
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication94303e78-8b7d-4e24-811d-3af3b1a4e330
relation.isAuthorOfPublication.latestForDiscovery94303e78-8b7d-4e24-811d-3af3b1a4e330

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