Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity

Human Mutation
S S DeebJ D Brunzell

Abstract

It has been suggested that apo A-IV may play a role in modulating the activation of lipoprotein lipase (LPL) by apo C-II (Goldberg et al., 1990). Therefore, the role of genetic variation at the apolipoprotein A-IV locus in familial combined hyperlipidemia (FCHL) was investigated. A subset of FCHL patients with half the level of plasma LPL activity was screened by single-strand conformation polymorphism (SSCP) for variants in the apolipoprotein A-IV gene. Two of 20 such individuals were found to be heterozygous carriers of previously undescribed amino acid substitutions: S158L and R 244Q substitutions, designated A-IV-Seattle-1 and A-IV-Seattle-2, respectively. These substitutions were not detected among 20 other FCHL patients with normal LPL levels and among 97 unselected medical students. The finding of these two alleles among only the 20 patients with FCHL with reduced levels of LPL suggests an association with this phenotype. It is hypothesized that these two alleles may contribute, along with alleles of other genes or environmental factors, to the development of FCHL. A third previously undescribed variant (A141S) was observed in four (two homozygotes and two heterozygotes) of the 97 medical students.

References

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Citations

Sep 6, 2003·The American Journal of Cardiology·Amir F Ayyobi, John D Brunzell
Mar 14, 2002·Current Opinion in Lipidology·Richard B Weinberg
Nov 18, 2006·Clinics in Laboratory Medicine·G Russell WarnickCleland C Landolt
Aug 30, 2006·Annals of Medicine·Elina SuviolahtiPäivi Pajukanta
Feb 15, 2012·Nature Reviews. Endocrinology·Martijn C G J BrouwersAnton F H Stalenhoef
Nov 13, 1999·Arteriosclerosis, Thrombosis, and Vascular Biology·B E AouizeratJ I Rotter
Apr 17, 2001·Arteriosclerosis, Thrombosis, and Vascular Biology·J Q PurnellJ D Brunzell
Oct 8, 2004·Annals of Human Genetics·A Huertas-VázquezM T Tusié-Luna
May 15, 2002·Arteriosclerosis, Thrombosis, and Vascular Biology·S MeijssenM Castro Cabezas
Aug 2, 2005·Cell Metabolism·Michael LehrkeMitchell A Lazar

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