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Publication
Estudos funcionais no recetor das lipoproteínas de baixa densidade: Estudo Português de Hipercolesterolemia Familiar
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Advisor(s)
Abstract(s)
A hipercolesterolemia familiar (FH) é uma doença comum do metabolismo
dos lípidos. Os indivíduos com FH apresentam níveis elevados de colesterol
no sangue desde o nascimento, tendo um elevado risco cardiovascular.
A presença de uma variante patogénica no gene LDLR é a principal causa
de FH, havendo mundialmente mais de 3000 variantes descritas neste
gene. Contudo, apenas 15% destas apresentam estudos funcionais in vitro,
demonstrando que afetam a função do recetor das lipoproteínas de baixa
densidade (LDL). O objetivo deste trabalho é apresentar um resumo de
todas as variantes caracterizadas funcionalmente no Estudo Português de
Hipercolesterolemia Familiar (EPHF ). Em 980 indivíduos com diagnostico
clínico de FH, 426 casos com suspeita e 554 familiares, foram encontradas
157 variantes diferentes no gene LDLR. No EPHF foram desenvolvidos 2
tipos de estudos funcionais para caracterizar alterações no LDLR. Um total
de 56 variantes foram já estudadas funcionalmente o que contribuiu para
obter um diagnóstico definitivo para 245 indivíduos. Os estudos funcionais
permitem aumentar a evidência para a classificação correta das variantes
no gene LDLR, influenciando assim o diagnóstico, tratamento, bem como
o prognóstico dos indivíduos com FH. Estes ensaios contribuem para um
diagnóstico mais especializado e de referência nesta área.
Familial hypercholesterolemia (FH) is a common disorder of lipid metabolism. Individuals with FH are at high cardiovascular risk due to having high blood cholesterol levels from birth. The presence of a pathogenic variant in the LDLR gene is the main cause of FH, with more than 3000 variants described in this gene worldwide. However, only 15% of them have functional studies in vitro, showing that they affect the function of the LDL receptor. The aim of this paper is to present a summary of all functionally characterized variants in the Portuguese Study of Familial Hypercholesterolemia (EPHF). In 980 individuals with a clinical diagnosis of FH, 426 index cases and 554 relatives, 157 different variants in the LDLR gene were found. In the EPHF, two types of functional studies were developed to characterize alterations in the LDLR. A total of 56 variants have been functionally studied, which contributed to obtain a definitive diagnosis for 245 individuals. Functional studies allow to increase the evidence for the correct classification of variants in the LDLR gene, thus influencing the diagnosis, treatment, as well as the prognosis of individuals with FH. These assays contribute to a more specialized and reference diagnosis in this area
Familial hypercholesterolemia (FH) is a common disorder of lipid metabolism. Individuals with FH are at high cardiovascular risk due to having high blood cholesterol levels from birth. The presence of a pathogenic variant in the LDLR gene is the main cause of FH, with more than 3000 variants described in this gene worldwide. However, only 15% of them have functional studies in vitro, showing that they affect the function of the LDL receptor. The aim of this paper is to present a summary of all functionally characterized variants in the Portuguese Study of Familial Hypercholesterolemia (EPHF). In 980 individuals with a clinical diagnosis of FH, 426 index cases and 554 relatives, 157 different variants in the LDLR gene were found. In the EPHF, two types of functional studies were developed to characterize alterations in the LDLR. A total of 56 variants have been functionally studied, which contributed to obtain a definitive diagnosis for 245 individuals. Functional studies allow to increase the evidence for the correct classification of variants in the LDLR gene, thus influencing the diagnosis, treatment, as well as the prognosis of individuals with FH. These assays contribute to a more specialized and reference diagnosis in this area
Description
Keywords
Hipercolesterolemia Familiar Dislipidémias Doenças do Metabolismo dos Lípidos Doenças Cardio e Cérebro-vasculares Colesterol Gene LDLR Estudo Português de Hipercolesterolemia Familiar Portugal
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2022 mai-ago;11(32):13-18
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP