Gould Douglas B, Phalan F Campbell, van Mil Saskia E, Sundberg John P, Vahedi Katayoun, Massin Pascale, Bousser Marie Germaine, Heutink Peter, Miner Jeffrey H, Tournier-Lasserve Elisabeth, John Simon W M
Howard Hughes Medical Institute, Bar Harbor, Me, USA.
N Engl J Med. 2006 Apr 6;354(14):1489-96. doi: 10.1056/NEJMoa053727.
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 alpha1, 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.
脑小血管疾病是20%至30%的缺血性中风以及更大比例的脑出血的潜在病因。在本报告中，我们表明，编码IV型前胶原α1的小鼠Col4a1基因发生突变，会使新生小鼠和成年小鼠都易患脑出血。通过手术分娩突变小鼠可减轻与出生相关的创伤和出血。我们在一个患有小血管疾病的人类家族中鉴定出一个COL4A1突变。我们得出结论，COL4A1突变可能导致一系列脑血管表型，并且携带COL4A1突变的人可能易患出血，尤其是在环境应激后。
