Publicação
Functional Impact Of APOB Variants In Familial Hypercholesterolemia
| dc.contributor.author | Ferreira, Maria Simões | |
| dc.contributor.author | Ramos, Diana | |
| dc.contributor.author | Rato, Inês | |
| dc.contributor.author | Jannes, Cinthia E. | |
| dc.contributor.author | Larrea-Sebal, Asier | |
| dc.contributor.author | Martín, César | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.contributor.author | Alves, Ana Catarina | |
| dc.date.accessioned | 2026-01-22T15:52:33Z | |
| dc.date.available | 2026-01-22T15:52:33Z | |
| dc.date.issued | 2025-04-04 | |
| dc.description.abstract | Familial hypercholesterolemia (FH) is an inherited condition of lipid metabolism characterized by increased levels of LDL cholesterol, and APOB variants are responsible for 5%-10% of FH cases. The majority of APOB variants are missense, but nonsense variants and small indels in exon 29 were also identified in individuals with FH phenotype and can be the cause of disease. The aim of this project was to study functionally APOB variants identified in individuals clinical diagnosed with FH in our cohort. LDL was isolated through sequential ultracentrifugation. CHO-ldlA7 cells were transfected with wt LDLR plasmid and incubated with FITC-labeled LDL to determine LDL binding and uptake by flow cytometry. ED-LDLR fragments purified from HEK293 cells were incubated with the APOB variants and antibodies, to determine apoB affinity for LDLR by ELISA assay. Recently we assessed 8 variants: p.(Gln4316*) presented reduced affinity for the LDLR, impairing the binding of apoB to LDLR; p.(Ala1393Val), p.(Asp1456Asn), p.(Met2042Thr), p.(Asp2213del), p.(Ile3374Thr), p.(Val4295Leu) and p.(Arg4519Thr) do not appear to impact apoB's binding to the LDL receptor. Functional studies are essential for assessing the pathogenicity of genetic variants and are one of the key criteria for their classification. These analyses provide crucial data for creating personalized therapeutic strategies. Our goal is to increase the number of characterized variants, beginning with 15 more variants from the Portuguese FH Study. | eng |
| dc.description.sponsorship | PerMedFH project funded by La Caixa Foundation in a call partnered by: FCT. | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/10743 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.rights.uri | N/A | |
| dc.subject | APOB | |
| dc.subject | Functional Studies | |
| dc.subject | Familial Hypercholesterolemia | |
| dc.subject | LDL Cholesterol | |
| dc.subject | Doenças Cardio e Cérebro-vasculares | |
| dc.title | Functional Impact Of APOB Variants In Familial Hypercholesterolemia | eng |
| dc.type | conference poster | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-04 | |
| oaire.citation.conferencePlace | Humlebæk, Denmark | |
| oaire.citation.title | 31st Annual Scandinavian Atherosclerosis Conference, 2-5 abril 2025 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |