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Article Synopsis
- Cerebral cavernous malformations (CCMs) are problems in blood vessels that can cause serious issues like epilepsy and stroke, especially when inherited from a specific genetic mutation.
- Scientists studied different types of genes in two models of mice (acute and chronic) to see how CCMs affect them differently. They found many genes acting differently depending on whether the problem was new or old.
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Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis.
Elife
February 2018
Institute of Biochemistry and Biology, Potsdam University, Potsdam, Germany.
Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system. Cerebral cavernous malformation (CCM) is an inherited vascular disease that occurs when a second somatic mutation causes a loss of CCM1/KRIT1, CCM2, or CCM3 proteins.
View Article and Find Full Text PDFCorrigendum: Cerebral Cavernous Malformations: Review of the Genetic and Protein-Protein Interactions Resulting in Disease Pathogenesis.
Front Surg
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Department of Neurosurgery, St. Joseph's Hospital and Medical Center, Barrow Neurological Institute, Phoenix, AZ, United States.
[This corrects the article on p. 60 in vol. 3, PMID: 27896269.
View Article and Find Full Text PDFMutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.
Brain Pathol
March 2011
Department of Biomorphology and Biotechnologies, University of Messina, Italy.
Cerebral cavernous malformations (CCMs) are vascular lesions of the CNS characterized by abnormally enlarged capillary cavities. CCMs can occur as sporadic or familial autosomal dominant form. Familial cases are associated with mutations in CCM1[K-Rev interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes.
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