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Review
CCM3 and cerebral cavernous malformation disease
  1. Kang Wang,
  2. Huanjiao Jenny Zhou,
  3. Min Wang
  1. Interdepartmental Program in Vascular Biology and Therapeutics, Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA
  1. Correspondence to Dr Min Wang, Interdepartmental Program in Vascular Biology and Therapeutics, Department of Pathology Yale University School of Medicine New Haven Connecticut USA; wang.min{at}yale.edu

Abstract

Cerebral cavernous malformations (CCMs) are vascular lesions characterised by enlarged and irregular structure of small blood vessels in the brain, which can result in increased risk of stroke, focal neurological defects and seizures. Three different genes, CCM1/Krev/Rap1 Interacting Trapped 1, CCM2/MGC4607 and CCM3/PDCD10, are associated with the CCMs’ progression, and mutations in one of three CCM genes cause CCM disease. These three CCM proteins have similar function in maintaining the normal structure of small blood vessels. However, CCM3 mutation results in a more severe form of the disease which may suggest that CCM3 has unique biological function in the vasculature. The current review focuses on the signalling pathways mediated by CCM3 in regulating endothelial cell junction, proliferation, migration and permeability. These findings may offer potential therapeutic strategies for the treatment of CCMs.

  • CCM3
  • PDCD10
  • cell junction
  • angiogenesis
  • GCKⅢ
  • EndMT

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/svn-2018-000195

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    Footnotes

    • Contributors KW wrote the article, HJZ and WM provided guidance and modifications.

    • Funding This work was supported by National Key Research and Development Program of China (2016YFC1300600), National Natural Science Foundation of China (No. U161219), Science Grant of Guangzhou (2016040220131), and Science grants of Guangdong (No. 2015B020225002). This work was partly supported by NIH grants R01 HL136507, R01HL109420 and HL115148.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; externally peer reviewed.

    • Data sharing statement No additional data are available.

    • Correction notice This article has been corrected since it was published. Dr. Min Wang’s name was incorrectly transposed.

    • Patient consent for publication Not required.