Journal
SCIENCE
Volume 308, Issue 5725, Pages 1167-1171Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1109418
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- NCI NIH HHS [CA34196] Funding Source: Medline
- NEI NIH HHS [EY11721] Funding Source: Medline
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Porencephaly is a rare neurological disease, typically manifest in infants, which is characterized by the existence of degenerative cavities in the brain. To investigate the molecular pathogenesis of porencephaly, we studied a mouse mutant that develops porencephaly secondary to focal disruptions of vascular basement membranes. Half of the mutant mice died with cerebral hemorrhage within a day of birth, and similar to 18% of survivors had porencephaly. We show that vascular defects are caused by a semidominant mutation ill the procollagen type IV alpha 1 gene (CoNa1) in mice, which inhibits the secretion of mutant and normal type IV collagen. We also show that COL4A1 mutations segregate with porencephaly in human families. Because not all mutant mice develop porencephaly, we propose that CoNa1 mutations conspire with environmental trauma in causing the disease.
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