title: Cholesteryl ester transfer protein deficiency caused by a nonsense mutation detected in the patient's macrophage mRNA.
abstract: Cholesteryl ester transfer protein (CETP) deficiency causes marked elevation of plasma high-density lipoproteins, termed hyperalphalipoproteinemia. Only one CETP mutation has been found previously, partly because the relative unavailability of CETP mRNA has hampered analysis. We demonstrated CETP mRNA expression in the monocyte-derived macrophages and identified a new CETP mutation by analyzing the macrophage mRNA of a homozygous patient with familial form of hyperalphalipoproteinemia. The nonsense mutation at codon 309 in exon 10 of the CETP gene was thought to delete the carboxy-terminal third and caused a decrease in the level of CETP mRNA. Our findings provide more evidence that CETP mutations may underlie a subset of familial hyperalphalipoproteinemia.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Gotoda
authors.forename: M
authors.initials: M
authors.lastname: Kinoshita
authors.forename: H
authors.initials: H
authors.lastname: Shimano
authors.forename: K
authors.initials: K
authors.lastname: Harada
authors.forename: M
authors.initials: M
authors.lastname: Shimada
authors.forename: J
authors.initials: J
authors.lastname: Ohsuga
authors.forename: T
authors.initials: T
authors.lastname: Teramoto
authors.forename: Y
authors.initials: Y
authors.lastname: Yazaki
authors.forename: N
authors.initials: N
authors.lastname: Yamada
mesh_terms: D001483:Base Sequence; D002352:Carrier Proteins / Q000096:biosynthesis / Q000235:genetics*; D002478:Cells, Cultured; D002784:Cholesterol / Q000097:blood; D053480:Cholesterol Ester Transfer Proteins; D002788:Cholesterol Esters / Q000378:metabolism*; D008076:Cholesterol, HDL / Q000097:blood; D004247:DNA; D005091:Exons; D005260:Female; D006023:Glycoproteins; D006801:Humans; D006951:Hyperlipoproteinemias / Q000097:blood / Q000235:genetics*; D008264:Macrophages / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis / Q000378:metabolism*; D014280:Triglycerides / Q000097:blood
chemical_list: C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D002788:Cholesterol Esters; D008076:Cholesterol, HDL; D006023:Glycoproteins; D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D014280:Triglycerides; D004247:DNA; D002784:Cholesterol