Localization of laminin chains in the human retina: possible implications for congenital muscular dystrophy associated with α2-chain of laminin deficiency

详细信息    查看全文

• 作者：Toti ; Paolo ; De Felice ; Claudio ; Malandrini ; Alessandro ; Megha ; Tiziana ; Cardone ; Concetta ; et. al.
• 关键词：Laminin α ; 2-chain ; Congenital muscular dystrophy ; Laminin ; Retina
• 刊名：Neuromuscular Disorders
• 出版年：1997
• 出版时间：January, 1997
• 年：1997
• 卷：7
• 期：1
• 页码：21-25
• 全文大小：504 K

文摘

One recently described form of congenital muscular dystrophy (CMD) is associated with deficiency of the α2-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 α1, α2, β1 and γ1 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 α2-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.