PURPOSE: To investigate corneal deposits associated with kerato-epithelin (KE) in three corneal dystrophies harboring mutations at Arg-124 in the BIGH3 gene. METHODS: Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined. Corneal buttons obtained during keratoplasties were stained with Masson's trichrome and with Congo red, and immunostained with antibodies specific for N-terminal and C-terminal portions of KE (KE-15 and KE-2, respectively). RESULTS: In all corneas with ACD, subepithelial to midstromal deposits of granular material stained with KE-2 and KE-15. However, deep stromal deposits containing amyloid reacted with KE-2, but not KE-15. Granular deposits in the subepithelial layer observed in SGCD stained intensely with KE-2 and KE-15. In all corneas with CDL1, subepithelial and midstromal amyloid deposits stained with KE-2; these deposits did not stain with KE-15. Deposits between the epithelial layer and Bowman's layer stained with Masson's trichrome but not with Congo red in five of the seven corneas; these deposits were stained with both KE-2 and KE-15. CONCLUSIONS: Deposits in corneal buttons involved by ACD, SGCD, and CDL1 included forms of the BIGH3 gene product, KE. An N-terminal sequence of KE may be related to formation of amyloid associated with R124 mutations.
PURPOSE: To investigate corneal deposits associated with kerato-epithelin (KE) in three corneal dystrophies harboring mutations at Arg-124 in the BIGH3 gene. METHODS: Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined. Corneal buttons obtained during keratoplasties were stained with Masson's trichrome and with Congo red, and immunostained with antibodies specific for N-terminal and C-terminal portions of KE (KE-15 and KE-2, respectively). RESULTS: In all corneas with ACD, subepithelial to midstromal deposits of granular material stained with KE-2 and KE-15. However, deep stromal deposits containing amyloid reacted with KE-2, but not KE-15. Granular deposits in the subepithelial layer observed in SGCD stained intensely with KE-2 and KE-15. In all corneas with CDL1, subepithelial and midstromal amyloid deposits stained with KE-2; these deposits did not stain with KE-15. Deposits between the epithelial layer and Bowman's layer stained with Masson's trichrome but not with Congo red in five of the seven corneas; these deposits were stained with both KE-2 and KE-15. CONCLUSIONS: Deposits in corneal buttons involved by ACD, SGCD, and CDL1 included forms of the BIGH3 gene product, KE. An N-terminal sequence of KE may be related to formation of amyloid associated with R124 mutations.
Authors: Kasper Runager; Rajiv V Basaiawmoit; Taru Deva; Maria Andreasen; Zuzana Valnickova; Charlotte S Sørensen; Henrik Karring; Ida B Thøgersen; Gunna Christiansen; Jarl Underhaug; Torsten Kristensen; Niels Chr Nielsen; Gordon K Klintworth; Daniel E Otzen; Jan J Enghild Journal: J Biol Chem Date: 2010-12-06 Impact factor: 5.157
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