Genetics of cerebral cavernous malformations.

Journal Article (Journal Article;Review)

The past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM). This article summarizes the recent cloning of the CCM1, CCM2, and CCM3 genes, which are responsible for autosomal dominant CCM, and also describes current hypotheses for their roles in integrin and p38 mitogen-activated protein kinase- mediated regulation of angiogenesis. A mouse model of CCM has been generated by mutation of the Ccm1 gene, and it indicates a role for that protein in arterial development. Future studies will probably focus on integration of data from each of the three CCM genes into a single model of the pathogenesis of cavernous malformation.

Full Text

Duke Authors

Cited Authors

  • Plummer, NW; Zawistowski, JS; Marchuk, DA

Published Date

  • September 2005

Published In

Volume / Issue

  • 5 / 5

Start / End Page

  • 391 - 396

PubMed ID

  • 16131422

International Standard Serial Number (ISSN)

  • 1528-4042

Digital Object Identifier (DOI)

  • 10.1007/s11910-005-0063-7


  • eng

Conference Location

  • United States