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Functional studies of APOB variants the experience of the Portuguese Familial Hypercholesterolemia Study

2023-05Conference object Restricted access
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dc.contributor.authorFerreira, Maria Simões
dc.contributor.authorChora, Joana Rita
dc.contributor.authorMedeiros, Ana Margarida
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorAlves, Ana Catarina
dc.date.accessioned2024-01-05T12:05:11Z
dc.date.available2024-01-05T12:05:11Z
dc.date.issued2023-05
dc.description.abstractFamilial hypercholesterolemia (FH) is clinically characterized by increased levels of circulating LDL cholesterol leading to premature coronary heart disease. It can be caused by variants in LDLR, APOB, and PCSK9 genes. APOB variants are responsible for 5-10% of the FH cases, p.(Arg3527Gln) being the most common. Only recently the whole gene has been sequenced due to Next Generation Sequencing, increasing the variant spectrum of APOB and with it the number of variants that need to be functionally assessed. We aimed to characterize novel APOB variants identified in patients included in the Portuguese FH Study to confirm if they are the genetic cause of hypercholesterolemia. To better analyze these variants, we also create a database with all APOB rare variants found up to date in the Portuguese FH Study. The functional study of 5 variants is ongoing. To access if these variants affect apoB:LDL receptor binding, LDL from index cases and relatives with the variants was separated using sequential ultracentrifugation, and proliferation assays were performed with U937 cells. These cells do not synthesize cholesterol and they depend on apoB:LDL receptor binding to grow.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8862
dc.language.isoengpt_PT
dc.peerreviewednopt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectAPOBpt_PT
dc.subjectFunctional Studiespt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFunctional studies of APOB variants the experience of the Portuguese Familial Hypercholesterolemia Studypt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceMannhein, Alemanhapt_PT
oaire.citation.title91st European Atherosclerosis Society Congress, 21-24 May 2023pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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