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Browsing by Author "Benes, V."

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  • Functional Genomics in a cohort of FH mutation negative patients
    Publication . 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 subtilisin/kexin type 9 (PCSK9 ≈ 1-3%). Problem: Worldwide 50% of clinically diagnosed FH patients lack the identification of a causative mutation to explain their phenotype. Aim: Explore if rare genetic variants in genes involved in monogenic forms of dyslipidaemia can contribute to the FH phenotype.
    2019-05Conference object Restricted access Show more
  • Improving familial dyslipidaemia diagnosis
    Publication . 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.
    2018-08Conference object Restricted access Show more
  • The importance to track variants in genes causing recessive disorders within the family: a FH/sitosterolemia clinical case
    Publication . 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 disease is caused by mutations in either of two adjacent genes that encode ABC transporters, ABCG5 and ABCG8, responsible for the majority of sterol secretions into bile. Both disorders can cause premature atherosclerosis but have distinctive dietetic and therapeutic intervention. In the Portuguese Familial Hypercholesterolemia Study we have 348 FH mutation negative patients that could have another genetic cause for their hypercholesterolemia. The aim of this study is the clinical molecular report of a case belonging to this group.
    2018-05Conference object Restricted access Show more