Tumor-Associated Calcium Signal Transducer 2 Is Required for the Proper Subcellular Localization of Claudin 1 and 7 : Implications in the Pathogenesis of Gelatinous Drop-Like Corneal Dystrophy

摘要: Gelatinous drop-like dystrophy (GDLD) is a rare autosomal recessive form of corneal characterized by subepithelial amyloid depositions on the cornea. Previous clinical and laboratory observations have strongly suggested that epithelial barrier function significantly decreased in GDLD. Despite decade-old identification tumor-associated calcium signal transducer 2 (TACSTD2) gene as causative for GDLD, mechanism which loss this leads to pathological consequence disease remains unknown. In study, we investigated functional relationship between TACSTD2 function. Through use immunoprecipitation proximity ligation assay, obtained evidence protein directly binds claudin 1 7 proteins. addition, expression change subcellular localization tight junction-related proteins, including 1, 4, 7, ZO1 occludin, both diseased cornea cultured cells. These results indicate impairs through altered proteins GDLD corneas.