Neuroinflammation Plays a Critical Role in Cerebral Cavernous Malformation Disease
Author(s) -
Catherine Chinhchu Lai,
Bliss Nelsen,
Eduardo Frías-Anaya,
Helios Gallego-Gutiérrez,
Marco Orecchioni,
Victoria Herrera,
Elan Ortiz,
Hao Sun,
Omar A. Mesarwi,
Klaus Ley,
Brendan Gongol,
Miguel Alejandro LopezRamirez
Publication year - 2022
Publication title -
circulation research
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 4.899
H-Index - 336
eISSN - 1524-4571
pISSN - 0009-7330
DOI - 10.1161/circresaha.122.321129
Subject(s) - neuroinflammation , biology , microglia , endothelium , inflammation , pathogenesis , inflammasome , microbiology and biotechnology , pyrin domain , immunology , pathology , cancer research , medicine , genetics
Cerebral cavernous malformations (CCMs) are neurovascular lesions caused by loss of function mutations in 1 of 3 genes, including KRIT1 (CCM1 ), CCM2 , and PDCD10 (CCM3 ). CCMs affect ≈1 out of 200 children and adults, and no pharmacologic therapy is available. CCM lesion count, size, and aggressiveness vary widely among patients of similar ages with the same mutation or even within members of the same family. However, what determines the transition from quiescent lesions into mature and active (aggressive) CCM lesions is unknown.
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