Involvement of TGF-{beta} receptor- and integrin-mediated signaling pathways in the pathogenesis of granular corneal dystrophy II

Investigative Ophthalmology & Visual Science
Seung-Il ChoiEung Kweon Kim

Abstract

Purpose. The purpose of this study was to elucidate the pathophysiological process in primary cultured corneal fibroblasts (PCFs) from normal subjects and granular corneal dystrophy (GCD) II patients, by using cDNA microarrays. Methods. PCFs were isolated from the corneas of normal subjects and GCD II patients who were heterozygous and homozygous for the TGFBI R124H mutation. RNA was isolated from each sample, and gene expression profiles were analyzed with a cDNA microarray consisting of approximately 29,000 genes. Cell adhesion assays were performed to confirm the functionality of the detected gene expression profiles. Results. Twofold differences were detected in the expression of 555 genes between wild-type and homozygous GCD II PCFs. Of these, 319 genes were upregulated, and 236 genes were downregulated in the homozygous GCD II PCFs. The most abundant and consistent changes were observed in gene families encoding signal transduction pathways involving the TGF-beta receptor- and integrin-mediated signaling, cell differentiation and proliferation, immune responses, cell adhesion, extracellular matrix (ECM) proteolytic enzymes, cell cycle, cytoskeletal organization, mitochondrial energy metabolism, collagen catabolism, respon...Continue Reading

Citations

Mar 14, 2009·The Journal of General and Applied Microbiology·Sung-Tae KimYoung-Kee Kim
Mar 8, 2014·Journal of Cell Communication and Signaling·Sunil K Parapuram, William Hodge
Jan 9, 2014·Cellular and Molecular Life Sciences : CMLS·Ryoiti Kiyama, Yun Zhu

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