Browsing by Author "Alves, A.C"
Now showing 1 - 3 of 3
Results Per Page
Sort Options
- Construction of a New Familial Hypercholesterolemia Variant Data Base. A Systematic Review for a 2015 UpdatePublication . Azevedo, S.; Chora, J.R; Alves, A.C; Medeiros, A.M.; Bourbon, MafaldaAims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder with increased cardiovascular risk, caused by mutations in LDLR, APOB and PCSK 9 genes. Although it is described that over 1700 variants have been found, none of the existing databases are completely updated. The aim of this work is to construct a FH database in order to provide a unique source of verified information about variants associated with FH for a more accurate genetic diagnosis.
- Mutational analysis of the Portuguese cohort with clinical diagnosis of FHPublication . Medeiros, A.M.; Alves, A.C; Bourbon, M.INTRODUCTION : Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism (1:500 frequency), caused by mutations in genes involved in cholesterol’s clearance. FH patients present high levels of plasma cholesterol since birth, and if untreated, develop premature coronary heart disease (pCHD). The aim of the Portuguese FH Study is to promote the early identification and characterization of FH patients in order to decrease their cardiovascular risk by the implementation of correct/adequate and early counselling/treatment.
- The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemiaPublication . Benito-Vicente, A.; Alves, A.C; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, M.Purpose: Familial hypercholesterolemia (FH) is one of the most common monogenic disorders, and the high concentrations of low-density lipoprotein (LDL) cholesterol presented since birth confers on these patients an increased cardiovascular risk. More than 1,600 alterations have been described in the LDL receptor gene (LDLR), but a large number need to be validated as mutations causing disease to establish a diagnosis of FH. This study aims to characterize, both at the phenotypic and genotypic levels, families with a clinical diagnosis of FH and present evidence for the importance of the integration of clinical, molecular, and functional data for the correct diagnosis of patients with FH.Methods:A detailed analysis of the phenotype and genotype presented by 55 families with 13 different alterations in the LDLR was conducted. For eight of these, an extensive functional characterization was performed by flow cytometry, confocal microscopy, and reverse transcriptase polymerase chain reaction.Results:Carriers of neutral alterations presented a significantly lower incidence of premature cardiovascular disease, lower levels of atherogenic lipoproteins and a large number of these individuals had LDL-cholesterol values below the 75th percentile. presented a significantly lower incidence of premature cardiovascular disease, lower levels of atherogenic lipoproteins and a large number of these individuals had LDL-cholesterol values below the 75th percentile However, the functional study was essential to determine the pathogenicity of variants.Conclusion:The data collected illustrate the importance of this integrated analysis for the correct assessment of patients with FH who can otherwise be misdiagnosed.