Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism

J Clin Invest. 2012 Aug;122(8):2807-16. doi: 10.1172/JCI63563. Epub 2012 Jul 2.

Abstract

Genome-wide association studies (GWAS) have identified a genetic variant at a locus on chromosome 1p13 that is associated with reduced risk of myocardial infarction, reduced plasma levels of LDL cholesterol (LDL-C), and markedly increased expression of the gene sortilin-1 (SORT1) in liver. Sortilin is a lysosomal sorting protein that binds ligands both in the Golgi apparatus and at the plasma membrane and traffics them to the lysosome. We previously reported that increased hepatic sortilin expression in mice reduced plasma LDL-C levels. Here we show that increased hepatic sortilin not only reduced hepatic apolipoprotein B (APOB) secretion, but also increased LDL catabolism, and that both effects were dependent on intact lysosomal targeting. Loss-of-function studies demonstrated that sortilin serves as a bona fide receptor for LDL in vivo in mice. Our data are consistent with a model in which increased hepatic sortilin binds intracellular APOB-containing particles in the Golgi apparatus as well as extracellular LDL at the plasma membrane and traffics them to the lysosome for degradation. We thus provide functional evidence that genetically increased hepatic sortilin expression both reduces hepatic APOB secretion and increases LDL catabolism, providing dual mechanisms for the very strong association between increased hepatic sortilin expression and reduced plasma LDL-C levels in humans.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • APOBEC-1 Deaminase
  • Adaptor Proteins, Vesicular Transport / genetics
  • Adaptor Proteins, Vesicular Transport / metabolism*
  • Animals
  • Apolipoproteins B / genetics
  • Apolipoproteins B / metabolism*
  • Base Sequence
  • Cell Line
  • Cytidine Deaminase / deficiency
  • Cytidine Deaminase / genetics
  • DNA Primers / genetics
  • Humans
  • Hydrogen-Ion Concentration
  • Kinetics
  • Lipoproteins, LDL / metabolism*
  • Lipoproteins, VLDL / metabolism
  • Liver / metabolism*
  • Lysosomes / metabolism
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Models, Biological
  • Mutagenesis, Site-Directed
  • Receptors, LDL / deficiency
  • Receptors, LDL / genetics
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism

Substances

  • Adaptor Proteins, Vesicular Transport
  • Apolipoproteins B
  • DNA Primers
  • Lipoproteins, LDL
  • Lipoproteins, VLDL
  • Receptors, LDL
  • Recombinant Proteins
  • APOBEC-1 Deaminase
  • APOBEC1 protein, human
  • Apobec1 protein, mouse
  • Cytidine Deaminase
  • sortilin