Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Brain, Cerebral-Hemorrhage, Cerebrovascular-Accident, Collagen-Type-IV, Female, Genetic-Predisposition-to-Disease, Glomerular-Basement-Membrane, Humans, Male, Mice-Inbred-C57BL, Mice-Mutant-Strains, Microcirculation, Mutation, Pedigree, Renal-Artery, Retinal-Artery, Risk-Factors, Stress
N Engl J Med 2006 Apr; 354(14):1489-96.
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.
Gould, D B.; Phalan, F C.; van, M i.; Sundberg, J P.; Vahedi, K; Massin, P; Bousser, M G.; Heutink, P; Miner, J H.; Tournier, Lasserve E.; and John, S W., "Role of COL4A1 in small-vessel disease and hemorrhagic stroke." (2006). Faculty Research 2000 - 2009. 1310.