Etxebarria Gallego, Aitor2024-11-272024-11-27production.37431https://dx.doi.org/10.26876/ikergazte.i.104https://gordailua.ueu.eus/handle/123456789/2223Hiperkolesterolemia familiarra (HF) gaixotasun autosomiko dominantea da eta gizabanakoen heterozigosiaren forma 1:500-maiztasun batekin agertzen da. HF-aren oinarri genetikoa LDLR, APOB eta PCSK9 geneetan kokatutako mutazioren baten ondorio izan ohi da. Nahiz eta geneko mutazio funtzionalen detekzioak HF-egoeraren nolabaiteko diagnosi bat hornitu, oraindik gene horien aldaera asko funtzionalki karakterizatu gabe daude. Ikerketa honen helburuak honakoak izan dira: HF-an agertzen diren mutazioen ezagumendua zabaldu eta diagnosi zehatz bat hornitu gertaera kardiobaskularren arriskua murrizteko.Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR, APOB and PCSK9 genes. Although the detection of functional mutations provides an unequivocal diagnosis of the FH condition, there are many variants whose pathogenicity is still unknown. The aims of this study were to expand our knowledge of mutations responsible for FH, providing an accurate diagnosis and leading to early treatment to reduce the risk of premature cardiovascular events.Hiperkolesterolemia familiarraLDLRApoB-100PCSK9.Familial hypercholesterolemiaLDLRApoB-100PCSK9.MedikuntzaNatur Zientziakintroduction