Bringing CCM into a dish: cell culture models for cerebral cavernous malformations

Autor: Dariush Skowronek, Robin A. Pilz, Konrad Schwefel, Christiane D. Much, Ute Felbor, Matthias Rath
Rok vydání: 2021
Předmět:
Zdroj: Medizinische Genetik. 33:251-259
ISSN: 1863-5490
0936-5931
Popis: Cerebral cavernous malformations (CCMs) are vascular lesions that can cause severe neurological complications due to intracranial hemorrhage. Although the CCM disease genes, CCM1, CCM2, and CCM3, have been known for more than 15 years now, our understanding of CCM pathogenesis is still incomplete. CCM research currently focuses on three main disease mechanisms: (1) clonal expansion of endothelial cells with biallelic inactivation of CCM1, CCM2, or CCM3, (2) recruitment of cells with preserved CCM protein expression into the growing lesion, and (3) disruption of endothelial cell–cell junctions in CCMs. We here describe novel CRISPR/Cas9-based in vitro models of CCM and discuss their strengths and limitations in the context of high-throughput drug screening and repurposing approaches.
Databáze: OpenAIRE
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