A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease

Hum Mol Genet. 2011 Jan 15;20(2):211-22. doi: 10.1093/hmg/ddq433. Epub 2010 Oct 11.

Abstract

Cerebral cavernous malformations (CCMs) are vascular lesions of the central nervous system appearing as multicavernous, blood-filled capillaries, leading to headache, seizure and hemorrhagic stroke. CCM occurs either sporadically or as an autosomal dominant disorder caused by germline mutation of one of the three genes: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Surgically resected human CCM lesions have provided molecular and immunohistochemical evidence for a two-hit (germline plus somatic) mutation mechanism. In contrast to the equivalent human genotype, mice heterozygous for a Ccm1- or Ccm2-null allele do not develop CCM lesions. Based on the two-hit hypothesis, we attempted to improve the penetrance of the model by crossing Ccm1 and Ccm2 heterozygotes into a mismatch repair-deficient Msh2(-/-) background. Ccm1(+/-)Msh2(-/-) mice exhibit CCM lesions with high penetrance as shown by magnetic resonance imaging and histology. Significantly, the CCM lesions range in size from early-stage, isolated caverns to large, multicavernous lesions. A subset of endothelial cells within the CCM lesions revealed somatic loss of CCM protein staining, supporting the two-hit mutation mechanism. The late-stage CCM lesions displayed many of the characteristics of human CCM lesions, including hemosiderin deposits, immune cell infiltration, increased endothelial cell proliferation and increased Rho-kinase activity. Some of these characteristics were also seen, but to a lesser extent, in early-stage lesions. Tight junctions were maintained between CCM lesion endothelial cells, but gaps were evident between endothelial cells and basement membrane was defective. In contrast, the Ccm2(+/-)Msh2(-/-) mice lacked cerebrovascular lesions. The CCM1 mouse model provides an in vivo tool to investigate CCM pathogenesis and new therapies.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Breeding
  • Disease Models, Animal*
  • Endothelial Cells / pathology
  • Genotype
  • Hemangioma, Cavernous, Central Nervous System / genetics*
  • Hemangioma, Cavernous, Central Nervous System / pathology*
  • Humans
  • KRIT1 Protein
  • Mice
  • Mice, Knockout
  • Microtubule-Associated Proteins / deficiency
  • Microtubule-Associated Proteins / genetics
  • MutS Homolog 2 Protein / deficiency
  • MutS Homolog 2 Protein / genetics
  • Mutation*
  • Phenotype
  • Proto-Oncogene Proteins / deficiency
  • Proto-Oncogene Proteins / genetics
  • rho-Associated Kinases / metabolism

Substances

  • KRIT1 Protein
  • Krit1 protein, mouse
  • Microtubule-Associated Proteins
  • Proto-Oncogene Proteins
  • rho-Associated Kinases
  • Msh2 protein, mouse
  • MutS Homolog 2 Protein