Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.

Circulation. Cardiovascular Genetics
Remco FranssenAnne P Beigneux

Abstract

Recent studies in mice have established that an endothelial cell protein, glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1), is essential for the lipolytic processing of triglyceride-rich lipoproteins. We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicronemia. The mutation, p.C65Y, replaces a conserved cysteine in the GPIHBP1 lymphocyte antigen 6 domain with a tyrosine and is predicted to perturb protein structure by interfering with the formation of a disulfide bond. Studies with transfected Chinese hamster ovary cells showed that GPIHBP1-C65Y reaches the cell surface but has lost the ability to bind lipoprotein lipase (LPL). When the GPIHBP1-C65Y homozygote was given an intravenous bolus of heparin, only trace amounts of LPL entered the plasma. We also observed very low levels of LPL in the postheparin plasma of a subject with chylomicronemia who was homozygous for a different GPIHBP1 mutation (p.Q115P). When the GPIHBP1-Q115P homozygote was given a 6-hour infusion of heparin, a significant amount of LPL appeared in the plasma, resulting in a fall in the plasma triglyceride levels from 1780 to 120 mg/dL. We identified a novel GPIHBP...Continue Reading

References

May 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·J D EskoW H Taylor
Jan 1, 1996·Methods in Enzymology·A Bensadoun
Jan 1, 1996·Blood Cells, Molecules & Diseases·J PetrankaW F Rosse
Sep 10, 2003·Journal of Molecular Evolution·B G FryA P Rooney
Dec 17, 2003·The British Journal of Dermatology·C CharfeddineS Abdelhak
Sep 30, 2006·Protein Science : a Publication of the Protein Society·Meera MallyaBegoña Aguado
May 17, 2007·Acta Crystallographica. Section D, Biological Crystallography·Yuxiang HuangChristopher Davies
Jul 11, 2007·Current Opinion in Lipidology·Stephen G YoungAnne P Beigneux
Sep 7, 2007·The New England Journal of Medicine·John D Brunzell
May 20, 2008·The FEBS Journal·Andrzej GalatAndré Ménez
May 30, 2008·Frontiers in Bioscience : a Journal and Virtual Library·Magnus KjaergaardMichael Ploug
Jun 11, 2008·Methods in Molecular Biology·Narayanan EswarAndrej Sali
Oct 3, 2008·The Journal of Clinical Investigation·Kevin Jon Williams
Oct 11, 2008·The Journal of Biological Chemistry·Michael M WeinsteinStephen G Young
Oct 16, 2008·Journal of Lipid Research·Anne P BeigneuxStephen G Young
Nov 6, 2008·Nucleic Acids Research·Aron Marchler-BauerStephen H Bryant
Mar 24, 2009·Arteriosclerosis, Thrombosis, and Vascular Biology·Anne P BeigneuxStephen G Young
Mar 26, 2009·American Journal of Physiology. Endocrinology and Metabolism·Hong Wang, Robert H Eckel
May 22, 2009·Arteriosclerosis, Thrombosis, and Vascular Biology·Kevin Jon Williams
Sep 4, 2009·The Journal of Biological Chemistry·Anne P BeigneuxStephen G Young
Dec 23, 2009·Journal of Lipid Research·Gunilla OlivecronaOlle Hernell

❮ Previous
Next ❯

Citations

Oct 20, 2011·Journal of Inherited Metabolic Disease·Jonathan J RiosHelen H Hobbs
Apr 25, 2012·Current Atherosclerosis Reports·Christopher T Johansen, Robert A Hegele
Sep 17, 2013·Current Atherosclerosis Reports·Ira J Goldberg, Karin E Bornfeldt
Apr 27, 2011·Proceedings of the National Academy of Sciences of the United States of America·Constance V VossStephen G Young
Nov 24, 2011·Genetic Testing and Molecular Biomarkers·Imen Ben-RebehBassam R Ali
Nov 30, 2011·Current Opinion in Lipidology·Brandon S J DaviesStephen G Young
Dec 18, 2012·Current Opinion in Lipidology·Vineeta SharmaRobert O Ryan
Mar 12, 2013·Genes & Development·Stephen G Young, Rudolf Zechner
Sep 4, 2010·Arteriosclerosis, Thrombosis, and Vascular Biology·Michael M WeinsteinStephen G Young
Oct 23, 2010·Arteriosclerosis, Thrombosis, and Vascular Biology·Peter GinStephen G Young
Dec 3, 2011·Circulation. Cardiovascular Genetics·Christopher T JohansenRobert A Hegele
Nov 3, 2010·Journal of Lipid Research·Christopher T JohansenRobert A Hegele
Aug 17, 2011·Journal of Lipid Research·Stephen G YoungAnne P Beigneux
Dec 10, 2013·Trends in Endocrinology and Metabolism : TEM·Devi MehrotraHyung J Chun
Oct 19, 2010·Clinical Lipidology·Anne P Beigneux
Jan 1, 2014·Journal of Animal Science and Biotechnology·Jie YangLi Jiang
Feb 20, 2016·Journal of Clinical Lipidology·María José ArizaPedro Valdivielso
May 6, 2014·Journal of Clinical Lipidology·Neema ChokshiAbhimanyu Garg
Sep 25, 2012·Heart Failure Clinics·Bernard P C Kok, David N Brindley
Oct 29, 2011·Biochimica Et Biophysica Acta·Christopher T Johansen, Robert A Hegele
Jan 26, 2011·Journal of Clinical Lipidology·Karine TremblayDaniel Gaudet
Feb 7, 2014·The Journal of Investigative Dermatology·Oludotun AdeyoStephen G Young
Jan 14, 2012·Journal of Internal Medicine·R P SurendranG M Dallinga-Thie
Feb 2, 2010·Atherosclerosis·Geesje M Dallinga-ThieMax Nieuwdorp
Sep 1, 2016·Journal of Clinical Lipidology·Claudio RabacchiPatrizia Tarugi
Apr 22, 2016·Human Genomics·Chelsea L LoughnerShivalingappa K Swamynathan
Dec 3, 2014·Biochimica Et Biophysica Acta·Ying Wang, Brian Rodrigues
Jul 14, 2010·Cell Metabolism·Brandon S J DaviesLoren G Fong
Dec 3, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Jesús M Martín-CamposFrancisco Blanco-Vaca
Sep 1, 2016·Journal of Clinical Lipidology·Nivedita PatniAbhimanyu Garg
Nov 5, 2016·Journal of Lipid Research·Christopher M AllanStephen G Young
Aug 9, 2016·Journal of Lipid Research·Christopher M AllanAnne P Beigneux
May 10, 2017·Journal of Lipid Research·Christopher M AllanStephen G Young
Mar 9, 2018·Current Opinion in Lipidology·Lilli Arndt, Ralph Burkhardt

❮ Previous
Next ❯

Related Concepts

Related Feeds

ApoE, Lipids & Cholesterol

Serum cholesterol, triglycerides, apolipoprotein B (APOB)-containing lipoproteins (very low-density lipoprotein (VLDL), immediate-density lipoprotein (IDL), and low-density lipoprotein (LDL), lipoprotein A (LPA)) and the total cholesterol/high-density lipoprotein (HDL) cholesterol ratio are all connected in diseases. Here is the latest research.