Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under construction

FEBS J. 2010 Mar;277(5):1084-96. doi: 10.1111/j.1742-4658.2009.07537.x. Epub 2010 Jan 22.

Abstract

Cerebral cavernous malformations (CCM) are common vascular malformations with an unpredictable risk of hemorrhage, the consequences of which range from headache to stroke or death. Three genes, CCM1, CCM2 and CCM3, have been linked to the disease. The encoded CCM proteins interact with each other within a large protein complex. Within the past 2 years, a plethora of new data has emerged on the signaling pathways in which CCM proteins are involved. CCM proteins regulate diverse aspects of endothelial cell morphogenesis and blood vessel stability such as cell-cell junctions, cell shape and polarity, or cell adhesion to the extracellular matrix. Although fascinating, a global picture is hard to depict because little is known about how these pathways coordinate to orchestrate angiogenesis. Here we present what is known about the structural domain organization of CCM proteins, their association as a ternary complex and their subcellular localization. Numerous CCM partners have been identified using two-hybrid screens, genetic analyses or proteomic studies. We focus on the best-characterized partners and review data on the signaling pathways they regulate as a step towards a better understanding of the etiology of CCM disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cell-Matrix Junctions / physiology
  • Hemangioma, Cavernous, Central Nervous System / genetics
  • Hemangioma, Cavernous, Central Nervous System / metabolism*
  • Hemangioma, Cavernous, Central Nervous System / physiopathology
  • Humans
  • KRIT1 Protein
  • Microfilament Proteins / genetics
  • Microfilament Proteins / metabolism
  • Microtubule-Associated Proteins / genetics
  • Microtubule-Associated Proteins / metabolism
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism
  • Signal Transduction
  • rap1 GTP-Binding Proteins / metabolism

Substances

  • KRIT1 Protein
  • KRIT1 protein, human
  • Microfilament Proteins
  • Microtubule-Associated Proteins
  • Proto-Oncogene Proteins
  • osmosensing scaffold for MEKK3 protein, mouse
  • rap1 GTP-Binding Proteins