Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
Open Access
- 6 April 2006
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 354 (14), 1489-1496
- https://doi.org/10.1056/nejmoa053727
Abstract
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 α1, 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.Keywords
This publication has 8 references indexed in Scilit:
- Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: A novel syndromeKidney International, 2005
- Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and PorencephalyScience, 2005
- Hereditary porencephaly: clinical and MRI findings in two Dutch familiesEuropean Journal of Paediatric Neurology, 2004
- Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathyNeurology, 2003
- QTL associated with blood pressure, heart rate, and heart weight in CBA/CaJ and BALB/cJ micePhysiological Genomics, 2002
- Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3American Journal of Human Genetics, 2001
- Hereditary endotheliopathy with retinopathy, nephropathy, and stroke(HERNS)Neurology, 1997
- Characterization of α1(IV) Collagen Mutations in Caenorhabditis elegans and the Effects of α1 and α2(IV) Mutations on Type IV Collagen DistributionThe Journal of cell biology, 1997