Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation
Shu Wei, Ye Li, Sean P. Polster, Christopher R. Weber, Issam A. Awad, Le Shen
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.
Topics & Concepts
PathogenesisHeadachesGermline mutationGermlineSomatic cellDiseaseBiologyGeneCentral nervous systemBarrier functionPathologyLoss functionBlood–brain barrierMutationNeuroscienceMedicineCancer researchCell biologyGeneticsPhenotypeSurgeryVascular Malformations Diagnosis and TreatmentIntracerebral and Subarachnoid Hemorrhage ResearchIntracranial Aneurysms: Treatment and Complications