On the Role of Kerato-Epithelin in the Pathogenesis of 5q31-Linked Corneal Dystrophies
作者： Yukihiko Mashima , Sylvie Uffer , Francis L. Munier , Leonidas Zografos , Masakazu Yamada
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摘要: PURPOSE. Recently, the authors identified a gene, BIGH3, in which different mutations cause group of hereditary corneal dystrophies: lattice type I and IIIA (CDLI CDLIIIA), granular Groenouw (CDGGI), Avellino (CDA), Reis-Bucklers' (CDRB). All these disorders are characterized by progressive accumulation deposits with structural organization. Experiments were conducted to determine role kerato-epithelin (KE), product pathogenesis diseases. METHODS. KE-15 KE-2, two rabbit antisera raised against peptides from 69-364 426-682 amino acid regions KE respectively, used for immunohistology corneas obtained after keratoplasty six CDLI patients, three CDGGI one CDA patient. RESULTS. The nonamyloid observed stained intensively whereas amyloid all analyzed reacted KE-2 but not KE-15. In cornea, where inclusions present, positive staining both was observed. CONCLUSIONS. Pathologic CDLI, CDGGI-, CDA-affected caused accumulation. Different patterns antibodies carboxyl termini suggest that mechanisms misfolding implicated 5q31-linked dystrophies.
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