Cavernous angioma

Familial Forms of CCM

Familial forms of CCM occur at three known genetic loci. The gene for CCM1 encodes KRIT1 and has been found to bind to ICAP1alpha, an integrin cytoplasmic-domain associated protein. The gene for CCM2 encodes a novel protein named "malcavernin" that contains a phosphotyrosine (PTB) binding domain. The exact biological function of CCM2 is currently unknown. The CCM3 gene was recently identified as PDCD10 (programmed cell death 10), which was initially identified as a gene that is up-regulated during the induction of apoptosis (cell death) in TF-1, a human myeloid cell line. The precise role of the PDCD10 protein in the CCM pathway that has been established to this point has not yet been determined. Research is ongoing to determine the function and properties of all three CCM gene products as well as the reaction pathways in which they are involved.

Related Topics:
Integrin - Apoptosis - Myeloid

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Mutations in these three genes account for 70 to 80 percent of all cases of cerebral cavernous malformations. The remaining 20 to 30 percent of cases may be due to other, still unidentified, genes.

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