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Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment
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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.
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Palavras-chave
Doenças Cardio e Cérebro-vasculares Familial Hypercholesterolemia LDLR gene