Abstract
Cerebral cavernous malformation (CCM) is a disease characterized by mulberry shaped clusters of dilated microvessels, primarily in the central nervous system. Such lesions can cause seizures, headaches, and stroke from brain bleeding. Loss-of-function germline and somatic mutations of a group of genes, called CCM genes, have been attributed to disease pathogenesis. In this review, we discuss the impact of CCM gene encoded proteins on cellular signaling, barrier function of endothelium and epithelium, and their contribution to CCM and potentially other diseases.
Highlights
One of the key functions of endothelial and epithelial cells is to create a barrier that separates different tissue compartments, and in the case of skin, epithelial cells separate body and outer environment
Ccm heterozygous knockout mice have little or no potential to develop Cerebral cavernous malformation (CCM)–like lesions in the brain, when they are on a genetically instable background (Msh2−/− or Trp53−/− ), these mice have a significantly higher lesion burden [19,31,32]. These findings demonstrate that loss of heterozygosity is likely an important driving force for CCM pathogenesis
Dashed red lines indicate by CCM protein and their interaction partners are shown in blue letters
Summary
One of the key functions of endothelial and epithelial cells is to create a barrier that separates different tissue compartments, and in the case of skin, epithelial cells separate body and outer environment. Compromised barrier function leads to abnormal mixing of different tissue components, which can contribute to pathogenesis of many diseases. We focus on a group of proteins that participates in the development of a neurovascular disease, cerebral cavernous malformation (CCM), and examine their impact on cellular signaling and barrier function
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