Why Don't Cerebral Cavernous Malformations Go With the Flow?
Why Don't Cerebral Cavernous Malformations Go With the Flow?
复制标题
脑海绵状血管瘤为何不随波逐流？
DOI：
10.1161/circresaha.119.315984
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发表时间：
2019
影响因子：
20.1
通讯作者：
Kahn,MarkL
中科院分区：
文献类型：
--
作者：
Tang,AlanT;Kahn,MarkL
脑海绵状血管畸形（CCM）是中枢神经系统特有的血管病变，在美国约有20万人发生出血性卒中。[1]该病在大多数个体中自发发生，但在约20%的病例中，它以常染色体显性方式遗传。CCM病变的临床方面已经被认识了几十年，并且对这种疾病的分子和遗传基础的第一次洞察来自经典的位置克隆研究，该研究确定了人类疾病家族形式中的3个突变基因。值得注意的是，对表现出心脏扩张表型的斑马鱼突变体进行的几乎同时的定位克隆研究发现了相同的遗传途径。3这些研究建立了脊椎动物心血管发育中CCM通路与成人脑血管疾病之间的联系，这是Rödel等人在本期研究中的重点。
Cerebral cavernous malformations (CCMs) are vascular lesions that arise specifically in the central nervous system and are responsible for hemorrhagic stroke in≈ 200 000 individuals in the United States. 1 The disease arises spontaneously in most individuals, but in≈ 20% of cases, it is inherited in an autosomal dominant manner. 2 The clinical aspects of CCM lesions have been recognized for decades, and the first insights into the molecular and genetic basis of this disease arose from classic positional cloning studies that identified 3 genes mutated in the familial form of the human disease. Remarkably, almost simultaneous positional cloning studies of zebrafish mutants that exhibited a dilated heart phenotype identified the same genetic pathway. 3 These studies established a link between the CCM pathway in vertebrate cardiovascular development and adult cerebrovascular disease that is the focus of the study by Rödel et al in this issue.