Genetics
A CETP nonsense mutation at codon 309, detected via macrophage mRNA, is identified as a new cause of familial hyperalphalipoproteinemia (Biochem Biophys Res Commun 1993)
Original title: Cholesteryl ester transfer protein deficiency caused by a nonsense mutation detected in the patient's macrophage mRNA
CETP deficiency causes marked elevation of plasma HDL, termed hyperalphalipoproteinemia, but only one CETP mutation had previously been identified, partly because the relative unavailability of CETP mRNA hampered analysis. The authors demonstrated CETP mRNA expression in monocyte-derived macrophages and used macrophage mRNA from a homozygous patient with familial hyperalphalipoproteinemia to identify a new CETP mutation: a nonsense mutation at codon 309 in exon 10 of the CETP gene, thought to delete the carboxy-terminal third of the protein and causing a decrease in CETP mRNA levels. The authors conclude these findings provide further evidence that CETP mutations may underlie a subset of familial hyperalphalipoproteinemia cases.
Original 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.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.