title: FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia.
abstract: In a patient with familial hypercholesterolemia (FH), we have identified a new mutation (-45delT) in repeat 3 of the low-density lipoprotein receptor (LDLR) gene promoter. Analysis of a neutral polymorphism in the LDLR mRNA from the patient's white blood cells showed that the expression of one allele was significantly reduced, and cells have only 24% of LDLR activity by binding and uptake of DiI-LDL. Transient transfection studies using a luciferase gene reporter revealed that the -45delT mutation considerably reduces the transcriptional activity of the LDLR promoter and strongly suggest that the mutation is the cause of the FH phenotype.
authors: Laboratory of Molecular Biology, Department of Science of Dietetics-Nutrition, Harokopio University of Athens, Greece. dedousi@hua.gr
authors: G V Z
authors: GV
authors: Dedoussis
authors: C
authors: C
authors: Pitsavos
authors: D
authors: D
authors: Kelberman
authors: J
authors: J
authors: Skoumas
authors: M E
authors: ME
authors: Prassa
authors: D M
authors: DM
authors: Choumerianou
authors: C
authors: C
authors: Stefanadis
authors: S E
authors: SE
authors: Humphries
authors: P
authors: P
authors: Toutouzas
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D005260:Female; D015870:Gene Expression; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL