Role of COL4A1 in small-vessel disease and hemorrhagic stroke
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
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DOI：
10.1056/nejmoa053727
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发表时间：
2006-04-06
影响因子：
158.5
通讯作者：
John, SWM
中科院分区：
文献类型：
--
作者：
Gould, DB;Phalan, FC;John, SWM
脑小血管疾病是20%至30%的缺血性中风和更大比例的脑内出血的基础。在这份报告中，我们表明，突变的小鼠Col4a1基因，编码IV型前胶原α 1，易患新生儿和成年小鼠脑内出血。突变小鼠的手术分娩减轻了出生相关的创伤和出血。我们在一个患有小血管疾病的家族中发现了COL4A1突变。我们的结论是，COL4A1的突变可能会导致脑血管表型的频谱和COL4A1突变的人可能倾向于出血，特别是在环境压力。
Small-vessel diseases of the brain underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. In this report, we show that a mutation in the mouse Col4a1 gene, encoding procollagen type IV alpha l, predisposes both newborn and adult mice to intracerebral hemorrhage. Surgical delivery of mutant mice alleviated birth-associated trauma and hemorrhage. We identified a COL4A1 mutation in a human family with small-vessel disease. We concluded that mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage, especially after environmental stress.