Teste Repositóri
2014-01-01
Resultados de pesquisa
Foram encontrados 104 registos.
FCT, SPC, MRC-ICL, INSA
Familial hypercholesterolemia (FH) results from defects in the hepatic uptake and degradation of LDL via the LDL-receptor pathway, common caused by a loss-of-function mutation in the LDLR receptor gene (LDLR), by mutations in the gene enconding apolipoprotein B (APOB) or rare dominant gain-of-function mutations in a member of the proprotein convertase family (PCSK9). However, mutations which encodes a protein required for clathrin-mediated internalization of the LDLR (LDLRAP1) by the liver, has also been described as a recessive form of FH. The presence of mutations in other genes (CYP7A1, enzyme that catalyses the first step in the hepatic catabolism of cholesterol, and SREBP-2, a transcription factor that bind to the sterol regulatory element ) have been described, but these are very rare causes of hypercholesterolaemia.
In the Por...
Familial hypercholesterolemia (FH) is a genetic condition characterized by a high cholesterol concentration in the blood. The most frequent causes of FH are inherited defects in the Low Density Lipoprotein Receptor gene (LDLR) but, in a small percentage of patients, mutations in the apolipoprotein B gene (APOB) and in the propotein convertase subtilisin/kexin type 9 gene (PCSK9) are also responsible for FH. These 3 genes are currently studied in the “Portuguese FH study”. From the 404 families with a clinical diagnosis of FH already studied only 48% of these have a mutation in one of the 3 studied genes, so other gene defects must exist to explain the cause of hypercholesterolemia in the remaining families.
The first aim was the exclusion of previously unidentified LDLR and APOB gene defects, as well as the exclusion of mutations in ...
Familial hypercholesterolemia (FH) is a genetic condition characterized by a high cholesterol concentration in the blood. The most frequent causes of FH are inherited defects in the Low Density Lipoprotein Receptor gene (LDLR) but, in a small percentage of patients, mutations in the apolipoprotein B gene (APOB) and in the propotein convertase subtilisin/kexin type 9 gene (PCSK9) are also responsible for FH. These 3 genes are currently studied in the “Portuguese FH study”. From the 563 families with a clinical diagnosis of FH studied only 41% of these have a mutation in one of the 3 studied genes, so other gene defects must exist to explain the cause of hypercholesterolemia in the remaining families.
The aim of this study was the exclusion of previously unidentified LDLR and APOB gene defects in 65 severely affected patients, as well ...
Familial hypercholesterolemia (FH) is a genetic condition characterized by a high cholesterol concentration in the blood. The most frequent causes of FH are inherited defects in the Low Density Lipoprotein Receptor gene (LDLR) but, in a small percentage of patients, mutations in the apolipoprotein B gene (APOB) and in the propotein convertase subtilisin/kexin type 9 gene (PCSK9) are also responsible for FH. These 3 genes are currently studied in the “Portuguese FH study”. From the 404 families with a clinical diagnosis of FH already studied only 48% of these have a mutation in one of the 3 studied genes, so other gene defects must exist to explain the cause of hypercholesterolemia in the remaining families.
The first aim was the exclusion of previously unidentified LDLR and APOB gene defects, as well as the exclusion of mutations in ...
