Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison
| Autor: | Claudio Priore Oliva, Livia Pisciotta, Giovanni Mario Pes, Stefano Bertolini, A. Bellocchio, Alfredo Cantafora, Marcello Arca, R. Fresa, Sebastiano Calandra, Lilla Di Scala |
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| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Hypercholesterolemia Genes Recessive clinical phenotype co-dominant and recessive hypercholesterolemia coronary artery disease Familial hypercholesterolemia Biology Coronary artery disease chemistry.chemical_compound Internal medicine Clinical phenotype medicine Humans Child Receptor Southern blot Phenocopy Vascular disease Cholesterol Homozygote Infant Sequence Analysis DNA medicine.disease Lipids Blotting Southern Phenotype Endocrinology Italy Receptors LDL chemistry Autosomal Recessive Hypercholesterolemia Child Preschool LDL receptor Female lipids (amino acids peptides and proteins) Co-dominant and recessive hypercholesterolemia Cardiology and Cardiovascular Medicine |
| Popis: | Autosomal recessive hypercholesterolemia (ARH) is a rare disorder, due to complete loss of function of an adaptor protein (ARH protein) required for receptor-mediated hepatic uptake of LDL. ARH is a phenocopy of homozygous familial hypercholesterolemia (HoFH) due to mutations in LDL receptor (LDLR) gene; however, previous studies suggested that ARH phenotype is less severe than that of HoFH. To test this hypothesis we compared 42 HoFH and 42 ARH patients. LDLR and ARH genes were analysed by Southern blotting and sequencing. LDLR activity was measured in cultured fibroblasts. In ARH plasma LDL cholestrol (LDL-C) level (14.25+/-2.29 mmol/L) was lower than in receptor-negative HoFH (21.38+/-3.56 mmol/L) but similar to that found in receptor-defective HoFH (15.52+/-2.39 mmol/L). The risk of coronary artery disease (CAD) was 9-fold lower in ARH patients. No ARH patients |
| Databáze: | OpenAIRE |
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