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In silico versus in vitro analysis of LDLR mutations
Alves, A.C.; Silva, S.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M.The LDL receptor (LDLR) is a glycoprotein that mediates binding and internalization of cholesterol-rich lipoproteins from plasma. Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in impaired catabolism of circulating LDL. This common autosomal inherited metabolism disorder leads to premature atherosclerosis and increased risk of CHD. Many different mutations (...
Genetic diagnosis of familial hypercholesterolaemia: the importance of function...
Bourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K.Familial hypercholesterolemia (FH) results from defective low-density lipoprotein receptor (LDLR) activity, mainly due to LDLR gene defects. Of the many different LDLR mutations found in patients with FH, about 6% of single base substitutions are located near or within introns, and are predicted to result in exon skipping, retention of an intron, or activation of cryptic sites during mRNA splicing. This paper r...
Familial hypercholesterolaemia in Portugal
Bourbon, M.; Alves, A.C.; Medeiros, A.M.; Silva, S.; Soutar, A.K.; Investigators of Portuguese FH StudyFamilial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD). Although Portugal should have about 20,000 cases, this disease is severely under-diagnosed in our country, this being the first presentation of Portuguese data o...
A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA...
Bourbon, M.; Sun, X.M.; Soutar, A.K.Familial hypercholesterolaemia (FH) is usually caused by mutations in the low density lipoprotein (LDL) receptor gene (LDLR) that impair clearance of LDL from the circulation. The increased risk of premature coronary heart disease associated with FH can be reduced by dietary advice and treatment with lipid-lowering drug therapy, but it is important to identify affected individuals at an early stage. Several pro...
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