title: Localization of laminin chains in the human retina: possible implications for congenital muscular dystrophy associated with alpha 2-chain of laminin deficiency.
abstract: One recently described form of congenital muscular dystrophy (CMD) is associated with deficiency of the alpha 2-chain of laminin, an extracellular matrix protein that is specifically located in the basement membrane of placental villi, Schwann cells and skeletal muscle in healthy humans. This laminin is also normally present in the skin, kidney and basement membrane of blood vessels of the CNS, though it is absent from the blood vessel walls in other tissues. In this immunohistochemical study, we have explored the presence of the alpha 1, alpha 2, beta 1 and gamma 1 chains of laminin in the normal human retina, which are all localized in the basement membrane of blood vessels. This study adds to the growing evidence that the alpha 2-chain of laminin is selectively expressed in certain tissues, and suggests that CMD associated with a lack of this protein may be a multisystem disorder, with possible direct involvement of the visual system.
authors.affiliation: Department of Pathology, University of Siena, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Toti
authors.forename: C
authors.initials: C
authors.lastname: De Felice
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: T
authors.initials: T
authors.lastname: Megha
authors.forename: C
authors.initials: C
authors.lastname: Cardone
authors.forename: M
authors.initials: M
authors.lastname: Villanova
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D005455:Fluorescent Antibody Technique; D006801:Humans; D007150:Immunohistochemistry; D007797:Laminin / Q000172:deficiency / Q000378:metabolism*; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism*; D012160:Retina / Q000378:metabolism*; D012171:Retinal Vessels / Q000378:metabolism; D014018:Tissue Distribution
chemical_list: D007797:Laminin