<原著>IV型コラーゲンα5鎖の正常組織分布とアルポート症候群での異常

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Although mutation in the COL4A5 gene encoding the α5 chain of type IV collagen, α5 (IV), has been indicated as the primary defect in X-linked Alport syndrome, protein data concerning the distribution of α5 (IV) in normal tissues and that in Alport syndrome are unclear. In this study we developed a specific monoclonal anti α5 (IV) antibody, H51,by immunizing rats with a synthetic peptide corresponding to the nonconsensus amino acid sequence of the α5 (IV) NCl domain. On Western blotting, H51 reacted with a 26kD monomer and associated dimers of human type IV collagen NCl. Immunohistochemical staining with H51 revealed a normal distribution of α5 (IV) in renal and extra-renal besement membranes. In the normal human kidney, α5 (IV) was present in the glomerular basement membrane (GBM), the Bowman's capsule, and some tubules (collecting ducts). This distribution was distinguishable from these of other α chains of type IV collagen. In extra-renal tissues, α5 (IV) was detected in the basement membranes of skin, lung and eye. All of 10 affected males with X-linked Alport syndrome exhibited complete absence of α5 (IV) antigen in the GBM and the epidermal basement membrane (EBM). α3 (IV) and α4 (IV) proteins were also undetectable in the GBM of those patients. In Alport families, 10 of 11 affected females showed mosaic α5 (IV) staining in the EBM, whereas 4 of 4 unaffected males of one family normally expressed α5 (IV) in the EBM. These findings indicate that there are abnormalities in α5 (IV) protein of the GBM and EBM in patients with X-linked Alport syndrome. Immunohistochemical examination of α5 (IV) in skin biopsies using this antibody may be useful in diagnosing of X-linked Alport syndrome.
近畿大学の論文
1995-06-25

<原著>IV型コラーゲンα5鎖の正常組織分布とアルポート症候群での異常

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