title: Sturge-Weber syndrome: altered blood vessel fibronectin expression and morphology.
abstract: Sturge-Weber syndrome presents with vascular malformations of the brain, skin, and eye. Fibronectin has potent effects on angiogenesis, vessel remodeling, and vessel innervation density. To determine fibronectin expression in the blood vessels of Sturge-Weber syndrome brain and skin tissue and to quantify the density and circumference of Sturge-Weber syndrome blood vessels by type compared with controls, we performed in situ hybridization for fibronectin messenger ribonucleic acid (RNA) expression on six Sturge-Weber syndrome cortical brain samples, six epilepsy brain samples, skin from two port-wine stain skin lesions, and two normal skin samples from two subjects with Sturge-Weber syndrome. Fibronectin messenger RNA was expressed in blood vessels and endothelial cells in the parenchyma of both Sturge-Weber syndrome and control brain tissues and in skin samples. Fibronectin expression was significantly reduced by 23% in the Sturge-Weber syndrome meningeal vessels compared with the epilepsy controls (P < .01). Fibronectin expression was significantly increased by 19% in the Sturge-Weber syndrome parenchymal vessels compared with the epilepsy controls (P < .05). No difference was found in the expression of fibronectin in port-wine stain skin blood vessels. The density of leptomeningeal blood vessels in the Sturge-Weber syndrome brain tissue samples was 45% greater than in the epilepsy samples (P < .05). Blood vessel circumference was significantly decreased in the Sturge-Weber syndrome meningeal vessels compared with the controls (27%; P < .05). When blood vessels from different brain regions were compared, fibronectin expression was decreased in Sturge-Weber syndrome meningeal vessels and was increased in the parenchymal vessels. Altered blood vessel fibronectin expression in Sturge-Weber syndrome could contribute to abnormal vascular structure and function in this disorder.
authors.affiliation: Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. acomi@jhmi.edu
authors.forename: Anne M
authors.initials: AM
authors.lastname: Comi
authors.forename: Catherine J C
authors.initials: CJ
authors.lastname: Weisz
authors.forename: Bridget H
authors.initials: BH
authors.lastname: Highet
authors.forename: Richard L
authors.initials: RL
authors.lastname: Skolasky
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Pardo
authors.forename: Ellen J
authors.initials: EJ
authors.lastname: Hess
mesh_terms: D001921:Brain / Q000098:blood supply* / Q000378:metabolism* / Q000473:pathology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005353:Fibronectins / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D008297:Male; D012333:RNA, Messenger / Q000378:metabolism; D012867:Skin / Q000098:blood supply* / Q000378:metabolism* / Q000473:pathology; D013341:Sturge-Weber Syndrome / Q000378:metabolism* / Q000473:pathology
chemical_list: D005353:Fibronectins; D012333:RNA, Messenger