Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

• Author(s): Benito-Vicente, A. ; Etxebarria, A. ; Alves, A.C. ; Bourbon, M. ; Martin, C.
• Date: 2014
• Persistent ID: http://hdl.handle.net/10400.18/2869
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Cardio e Cérebro-vasculares; Familial Hypercholesterolemia; LDLR gene
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

INTRODUCTION: Familial hypercholesterolemia (FH) is a common autosomal dominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is mostly mutations within the LDLR gene. Assessing the pathogenicity of LDLR variants is particularly important to give a patient a definitive diagnosis of FH. Current studies of LDLR activity ex vivo are based on the analysis of 125I-labeled lipoproteins or fluorescent-labeled LDL. The main purpose of this study was to compare the effectiveness of these two methods to assess LDLR functionality in order to validate a functional assay to analyse LDLR mutations.