Cerebral cavernous malformation - Its genetic and biological background

Cerebral cavernous malformations (CCMs) are vascular lesions of the central nervous system that consisit of enlarged vascular channels without intervening normal parenchyma. The CCMs can occur as sporadic or autosomal-dominant inherited condition. Linkage analysis of the familial CCMs has identified three different loci at 7q21.2 (CCM1), 7q13 (CCM2), and 3q25.2-q27 (CCM3). The genes at these loci have been identified as Krev1 Interaction Trapped 1; KRIT1 (CCM1), MGC4607; malcavernin (CCM2), and PDCD10 (CCM3), respectively. Recent investigations on these genes suggest that there are interactions between each gene, although the exact pathway of the formation of CCMs is still undetermined. In this review, the authors summarize the currently available knowledge on the molecular events associated with CCMs.