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FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia. 2003
G V Z Dedoussis, and
C Pitsavos, and
D Kelberman, and
J Skoumas, and
M E Prassa, and
D M Choumerianou, and
C Stefanadis, and
S E Humphries, and
P Toutouzas
Laboratory of Molecular Biology, Department of Science of Dietetics-Nutrition, Harokopio University of Athens, Greece. dedousi@hua.gr
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.
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