Vascular Signaling and Cancer (A270), German Cancer Research Center Heidelberg (DKFZ-ZMBH Alliance), Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany.
Trends Mol Med. 2013 May;19(5):302-8. doi: 10.1016/j.molmed.2013.02.004. Epub 2013 Mar 15.
Cerebral cavernous malformations (CCMs) are vascular lesions that can occur sporadically or as a consequence of inherited loss-of-function mutations, predominantly in the genes CCM1 (KRIT1), CCM2 (MGC4607, OSM, Malcavernin), or CCM3 (PDCD10, TFAR15). Inherited, familial CCM is characterized by the development of multiple lesions throughout a patient's life leading to recurrent cerebral hemorrhages. Recently, roles for the CCM proteins in maintaining vascular barrier functions and quiescence have been elucidated, and in this review we summarize the genetics and pathophysiology of this disease and discuss the molecular mechanisms through which CCM proteins may act within blood vessels.
脑内海绵状血管畸形（CCMs）是一种血管病变，可散发性发生，也可因 CCM1（KRIT1）、CCM2（MGC4607、OSM、Malcavernin）或 CCM3（PDCD10、TFAR15）等基因的遗传性功能丧失突变而导致。遗传性、家族性 CCM 的特征是在患者的一生中会发展出多个病变，导致反复发生脑出血。最近，CCM 蛋白在维持血管屏障功能和静止状态方面的作用已经阐明，在这篇综述中，我们总结了这种疾病的遗传学和病理生理学，并讨论了 CCM 蛋白在血管内可能发挥作用的分子机制。
