3 documents found, page 1 of 1
Functional Genomics in a cohort of FH mutation negative patients
Rossi, N.; Graça, R.; Alves, A.C.; Medeiros, A.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M.Background: Clinically, Familial Hypercholesterolaemia (FH) is characterized by high plasma concentrations of total and LDL cholesterol from birth, leading to premature atherosclerosis and coronary heart disease. Currently, the genetic diagnosis is made by finding a functional mutation in one of 3 genes: low-density lipoprotein receptor (LDLR ≈ 90-94%), apolipoprotein B (APOB ≈ 5-9%) and proprotein convertase s...
Improving familial dyslipidaemia diagnosis
Graça, R.; Rossi, N.; Alves, A.C.; Medeiros, A.; Zimon, M.; Raush, T.; Benes, V.; Pepperkok, R.; Bourbon, M.Aim: Familial Hypercholesterolemia (FH) is characterized clinically by high LDL plasma concentrations from birth leading to premature atherosclerosis and CHD. Only 40% of the patients enrolled in the Portuguese FH Study carry a putative pathogenic mutation. The remaining individuals may have polygenic forms of dyslipidaemia or mutations in genes not yet associated with FH.
The importance to track variants in genes causing recessive disorders within th...
Graça, R.; Abrantes, L.B.; Rossi, N.; Alves, A.C.; Medeiros, A.M.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M.Familial hypercholesterolemia (FH) is a common disorder of lipid metabolism. However there are other rare disorders presenting a similar phenotype as Sitosterolemia, where the patient also presents with high LDL values. Sitosterolemia is a rare autosomal recessive disorder, manifested by extremely elevated plant sterols (PS) in plasma and tissue, leading to xanthomas and premature atherosclerotic disease. This ...