BMB Rep. 2016; 49(5): 255-262  
Introduction to cerebral cavernous malformation: a brief review
Jaehong Kim1,2,*
1Department of Biochemistry, School of Medicine, Gachon University, Incheon 21936, 2Department of Health Sciences and Technology, Gachon Advanced Institute for Health Science and Technology, Gachon University, Incheon 21999, Korea
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Received: February 19, 2016; Published online: May 31, 2016.
© Korean Society for Biochemistry and Molecular Biology. All rights reserved.

The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities result in severe neurological symptoms such as seizures, focal neurological deficits and hemorrhagic strokes. CCM research has identified ‘loss of function’ mutations of three ccm genes responsible for the disease and also complex regulation of multiple signaling pathways including the WNT/β-catenin pathway, TGF-β and Notch signaling by the ccm genes. Although CCM research is a relatively new and small scientific field, as CCM research has the potential to regulate systemic blood vessel permeability and angiogenesis including that of the blood-brain barrier, this field is growing rapidly. In this review, I will provide a brief overview of CCM pathogenesis and function of ccm genes based on recent progress in CCM research.
Keywords: Angiogenesis, Central nervous system, Cerebral cavernous malformation, Signaling, Vascular permeability

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