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  • Holleboom, Adriaan GDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)

Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man

  • Article/chapterEnglish2011

Publisher, publication year, extent ...

  • Elsevier,2011
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:liu-73069
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-73069URI
  • https://doi.org/10.1016/j.cmet.2011.11.005DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding agencies|European Union| FP6-2005-LIFESCIHEALTH-6 037631 |Fondation Leducq Transatlantic Networks of Excellence||NWO| 40-00506-98-9001 |National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health||Netherlands Organisation for Scientific Research| 021.001.035 |Netherlands Heart Foundation| 2010T082 |
  • Genome-wide association studies have identified GALNT2 as a candidate gene in lipid metabolism, but it is not known how the encoded enzyme ppGalNAc-T2, which contributes to the initiation of mucin-type O-linked glycosylation, mediates this effect. In two probands with elevated plasma high-density lipoprotein cholesterol and reduced triglycerides, we identified a mutation in GALNT2. It is shown that carriers have improved postprandial triglyceride clearance, which is likely attributable to attenuated glycosylation of apolipoprotein (apo) C-III, as observed in their plasma. This protein inhibits lipoprotein lipase (LPL), which hydrolyses plasma triglycerides. We show that an apoC-III-based peptide is a substrate for ppGalNAc-T2 while its glycosylation by the mutant enzyme is impaired. In addition, neuraminidase treatment of apoC-III which removes the sialic acids from its glycan chain decreases its potential to inhibit LPL. Combined, these data suggest that ppGalNAc-T2 can affect lipid metabolism through apoC-III glycosylation, thereby establishing GALNT2 as a lipid-modifying gene.

Added entries (persons, corporate bodies, meetings, titles ...)

  • Karlsson, HelenÖstergötlands Läns Landsting,Linköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet,Arbets- och miljömedicin(Swepub:liu)helka90 (author)
  • Lin, Ruei-ShiuanSection on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA (author)
  • Beres, Thomas MSection on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA (author)
  • Sierts, Jeroen ADepartment of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Herman, Daniel SDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA (author)
  • Stroes, Erik S GDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Aerts, Johannes MDepartment of Medical Biochemistry, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Kastelein, John J PDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Motazacker, Mohammad MDepartment of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Dallinga-Thie, Geesje MDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Levels, Johannes H MDepartment of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Zwinderman, Aeilko HDepartment of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Seidman, Jonathan GDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA (author)
  • Seidman, Christine EDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA (author)
  • Ljunggren, StefanLinköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet(Swepub:liu)stelj68 (author)
  • Lefeber, Dirk JDepartment of Neurology, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands (author)
  • Morava, EvaInstitute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands (author)
  • Wevers, Ron ADepartment of Laboratory Medicine, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands (author)
  • Fritz, Timothy AFood and Drug Administration, Rockville, MD 20852, USA (author)
  • Tabak, Lawrence ASection on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA (author)
  • Lindahl, MatsLinköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet(Swepub:liu)matli17 (author)
  • Hovingh, G KeesDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Kuivenhoven, Jan AlbertDepartment of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands (author)
  • Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The NetherlandsYrkes- och miljömedicin (creator_code:org_t)

Related titles

  • In:Cell Metabolism: Elsevier14:6, s. 811-81550-41311932-7420

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