Deficiency of cholesteryl ester transfer protein. Description of the molecular defect and the dissociation of cholesteryl ester and triglyceride transport in plasma

Arteriosclerosis, Thrombosis, and Vascular Biology
A RitschJ R Patsch

Abstract

A patient is described who exhibited, despite excessively high postprandial triglyceride levels, high levels of HDL cholesterol. Measurement of CETP activity and mass in the patient's plasma showed values of less than 5% and 2%, respectively, of a normolipidemic plasma pool. The CETP cDNA of the patient exhibited a mutation (T-->G), turning codon 57 (TAT) of exon 2 into a stop codon (TAG) and abolishing a, XcmI restriction site. Digestion of directly amplified CETP cDNA from the patient with XcmI indicated the exclusive presence of CETP cDNA containing the mutation. Analysis of the corresponding region of the CETP gene indicated the patient to be heterozygous for the nonsense mutation at codon 57, a finding that can only be explained by the presence of a null allele in addition to the allele with the nonsense mutation. The combination of TG intolerance of uncertain cause, together with CETP deficiency due to a novel mutation, produced the paradoxical constellation--high levels of HDL cholesterol (172 mg/dL) associated with a high post-prandial lipemia of 1460 mg triglycerides/dL.8 hours--and provided further insight into the role of CETP as mediator between pools of triglycerides and cholesteryl esters in plasma.

References

Jan 1, 1991·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·N SakaiS Tarui
Feb 13, 1990·Biochemistry·L B AgellonA R Tall
Oct 7, 1988·JAMA : the Journal of the American Medical Association·M A AustinR M Krauss
Apr 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·A S JarnaginC Fielding
Dec 1, 1987·The Journal of Clinical Investigation·M S WeintraubJ L Breslow
Jan 1, 1986·Methods in Enzymology·A V NicholsT A Musliner
Jan 1, 1986·Methods in Enzymology·J R Patsch, W Patsch
Mar 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·J R PatschA M Gotto
Jan 1, 1984·Arteriosclerosis : an Official Journal of the American Heart Association, Inc·J J AlbersA Steinmetz
Oct 15, 1982·The Biochemical Journal·P J BarterG D Calvert
Sep 24, 1981·Biochimica Et Biophysica Acta·P J BlancheA V Nichols
Oct 1, 1994·Atherosclerosis·J R Patsch
Jul 15, 1993·Biochemical and Biophysical Research Communications·T GotodaN Yamada
Jan 1, 1991·Methods in Molecular Biology·P L Felgner

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Citations

Aug 14, 2001·Biochemical and Biophysical Research Communications·K Okumura-NojiS Yokoyama
Dec 21, 2000·Current Atherosclerosis Reports·W PatschJ R Patsch
Jun 24, 2003·Atherosclerosis·John F ThompsonPatrice M Milos
Dec 9, 2000·Biochimica Et Biophysica Acta·S YamashitaY Matsuzawa
Jul 10, 2004·Current Opinion in Lipidology·S Matthijs BoekholdtArie van Tol
May 3, 2012·Journal of Lipid Research·Philip J Barter, Kerry-Anne Rye
Nov 7, 1998·Clinical Chemistry and Laboratory Medicine : CCLM·S A HillM J McQueen
Jan 14, 1999·Critical Reviews in Clinical Laboratory Sciences·C G Stevenson
Mar 18, 2003·Journal of Lipid Research·S Matthijs Boekholdt, John F Thompson
Mar 1, 2018·Journal of Lipid Research·Sudichhya ShresthaKerry-Anne Rye
Jul 21, 2006·Obesity·Anton SandhoferChristoph F Ebenbichler
Dec 26, 2001·International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity·S KaserJ R Patsch
May 3, 2011·Clinica Chimica Acta; International Journal of Clinical Chemistry·Katsuyuki NakajimaAkira Tanaka

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