S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis

J Biol Chem. 2009 Jul 24;284(30):19927-36. doi: 10.1074/jbc.M109.013763. Epub 2009 May 28.

Abstract

Tissue Inhibitor of metalloproteinases-3 (TIMP-3) is a potent matrix-bound angiogenesis inhibitor. Mutations in TIMP-3 cause Sorsby Fundus Dystrophy, a dominant inherited, early onset macular degenerative disease, with choroidal neovascularization causing a loss of vision in the majority of patients. Here we report that expression of S156C TIMP-3 mutation in endothelial cells results in an abnormal localization of the protein, increased glycosylation, decreased matrix metalloproteinase inhibitory activity, and increased vascular endothelial growth factor (VEGF) binding with a consequent increase in VEGF-dependent migration and tube formation. These enhanced signaling events appear to be mediated as a consequence of a post-transcriptionally regulated increase in the expression of membrane-associated VEGFR-2 in endothelial cells of Timp-3(156/156) mutant mice as well as in human Sorsby fundus dystrophy eyes. Understanding the mechanism(s) by which mutant TIMP-3 can induce abnormal neovascularization provides important insight into the pathophysiology of a number of diseases with increased angiogenesis.

Publication types

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

MeSH terms

  • Actins / metabolism
  • Animals
  • Aorta / cytology
  • Cell Movement
  • Cell Proliferation
  • Cells, Cultured
  • Endothelial Cells / cytology
  • Endothelial Cells / metabolism
  • Eye / metabolism
  • Eye / pathology
  • Gene Expression
  • Glycosylation
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / metabolism
  • Macular Degeneration / pathology
  • Mice
  • Neovascularization, Pathologic / genetics*
  • Neovascularization, Pathologic / metabolism
  • Point Mutation
  • Protein Binding
  • Swine
  • Tissue Inhibitor of Metalloproteinase-3 / analysis
  • Tissue Inhibitor of Metalloproteinase-3 / genetics*
  • Tissue Inhibitor of Metalloproteinase-3 / metabolism*
  • Vascular Endothelial Growth Factor A / metabolism
  • Vascular Endothelial Growth Factor Receptor-2 / genetics
  • Vascular Endothelial Growth Factor Receptor-2 / metabolism

Substances

  • Actins
  • TIMP3 protein, human
  • Tissue Inhibitor of Metalloproteinase-3
  • Vascular Endothelial Growth Factor A
  • Vascular Endothelial Growth Factor Receptor-2