Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

被引:139
|
作者
Riant, Florence [1 ,2 ]
Bergametti, Francoise [1 ]
Ayrignac, Xavier [1 ]
Boulday, Gwenola [1 ]
Tournier-Lasserve, Elisabeth [1 ,2 ]
机构
[1] Univ Paris 07, INSERM, UMR S 740, F-75010 Paris, France
[2] Hop Lariboisiere, AP HP, Genet Lab, F-75475 Paris, France
关键词
angiogenesis; CCM1; CCM2; CCM3; cerebral cavernous malformations; cerebral hemorrhage; KRIT1; PDCD10; stroke; vascular malformations; IN-FRAME DELETION; TRUNCATING MUTATIONS; EXPRESSION ANALYSIS; ENDOTHELIAL-CELLS; SOMATIC MUTATIONS; 2-HIT MECHANISM; ENCODING KRIT1; PROTEIN; PATHOGENESIS; FAMILIES;
D O I
10.1111/j.1742-4658.2009.07535.x
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes have been identified: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Almost 80% of CCM patients affected with a genetic form of the disease harbor a heterozygous germline mutation in one of these three genes. Recent work has shown that a two-hit mechanism is involved in CCM pathogenesis which is caused by a complete loss of any of the three CCM proteins within endothelial cells lining the cavernous capillary cavities. These data were an important step towards the elucidation of the mechanisms of this condition.
引用
收藏
页码:1070 / 1075
页数:6
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