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Cerebral Cavernous Malformations and the Neurovascular Unit
Author(s) -
Louvi Angeliki
Publication year - 2013
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.27.1_supplement.320.3
Subject(s) - neurovascular bundle , neuroscience , biology , central nervous system , neural development , loss function , phenotype , neural cell , cell , gene , microbiology and biotechnology , anatomy , genetics
Communication between neural cells and the vasculature is integral to the proper development and later function of the central nervous system. A mechanistic understanding of the interactions between components of the neurovascular unit has implications for various disorders, including cerebral cavernous malformations in which focal vascular lesions form throughout the CNS. Loss of function mutations in three genes with demonstrated endothelial cell‐autonomous roles, CCM1/KRIT1 , CCM2 and PDCD10/CCM3 , cause familial CCM. In addition to the arterial endothelial cells, the CCM genes are expressed in cortical pyramidal neurons and astrocytes. We have uncovered a dual role of CCM3 in astrocytes: cell autonomous involvement in proliferation, activation and survival, and cell non‐autonomous regulation of neural/vascular interactions within the neurovascular unit. Extending this work, we will examine the role of Ccm3 in neurovascular development and disease with particular emphasis in the neural‐specific functions of the protein demonstrating an essential role of CCM3 in brain development.