Literature DB >> 20103053

Unfolded protein response in fuchs endothelial corneal dystrophy: a unifying pathogenic pathway?

Christoph Engler1, Clare Kelliher, Arielle R Spitze, Caroline L Speck, Charles G Eberhart, Albert S Jun.   

Abstract

PURPOSE: To assess for activation of the unfolded protein response in corneal endothelium of Fuchs endothelial corneal dystrophy patients.
DESIGN: Retrospective, comparative case series of laboratory specimens.
METHODS: Corneal specimens of patients with Fuchs dystrophy and controls with corneal pathologic features other than Fuchs dystrophy were evaluated by transmission electron microscopy (TEM) to evaluate for structural changes of the rough endoplasmic reticulum in corneal endothelium. TEM images were evaluated for alterations of rough endoplasmic reticulum as a sign of unfolded protein response. Normal autopsy eyes, Fuchs dystrophy corneas, and keratoconus corneas were used for immunohistochemistry. Immunohistochemistry was performed on formalin-fixed, paraffin-embedded sections of patient corneas for 3 unfolded protein response markers (GRP78, the alpha subunit of eukaryotic initiation factor 2, C/EBP homologous protein) and 2 apoptosis markers (caspase 3 and 9). Immunohistochemistry signal quantitation of corneal endothelium for evaluation of marker expression was performed using automated software. Corneal sections were assessed quantitatively for levels of immunohistochemistry marker expression.
RESULTS: TEM showed enlargement of rough endoplasmic reticulum in corneal endothelium of all Fuchs dystrophy specimens. Immunohistochemistry quantitation demonstrated a significant increase in mean signal in corneal endothelium from Fuchs dystrophy patients for markers GRP78, the alpha subunit of eukaryotic initiation factor 2, C/EBP homologous protein, and caspase 9 compared with non-Fuchs dystrophy corneas (P < .05).
CONCLUSIONS: Results of both TEM and immunohistochemistry indicate activation of unfolded protein response in Fuchs dystrophy. Unfolded protein response activation leads to endothelial cell apoptosis in Fuchs dystrophy and may play a central pathogenic role in this disease. Copyright (c) 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20103053      PMCID: PMC2813215          DOI: 10.1016/j.ajo.2009.09.009

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  28 in total

1.  Corneal endothelial cell apoptosis in patients with Fuchs' dystrophy.

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Journal:  Invest Ophthalmol Vis Sci       Date:  2000-08       Impact factor: 4.799

2.  An endoplasmic reticulum stress-specific caspase cascade in apoptosis. Cytochrome c-independent activation of caspase-9 by caspase-12.

Authors:  Nobuhiro Morishima; Keiko Nakanishi; Hiromi Takenouchi; Takehiko Shibata; Yukuto Yasuhiko
Journal:  J Biol Chem       Date:  2002-07-03       Impact factor: 5.157

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Journal:  Am J Ophthalmol       Date:  1974-09       Impact factor: 5.258

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Journal:  Cornea       Date:  1988       Impact factor: 2.651

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Journal:  Nature       Date:  1988-03-31       Impact factor: 49.962

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8.  BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.

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Journal:  J Biol Chem       Date:  1993-08-25       Impact factor: 5.157

9.  Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.

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Journal:  Eye (Lond)       Date:  2008-05-09       Impact factor: 3.775

10.  Involvement of caspase-4 in endoplasmic reticulum stress-induced apoptosis and Abeta-induced cell death.

Authors:  Junichi Hitomi; Taiichi Katayama; Yutaka Eguchi; Takashi Kudo; Manabu Taniguchi; Yoshihisa Koyama; Takayuki Manabe; Satoru Yamagishi; Yoshio Bando; Kazunori Imaizumi; Yoshihide Tsujimoto; Masaya Tohyama
Journal:  J Cell Biol       Date:  2004-05-03       Impact factor: 10.539

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  48 in total

1.  An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.

Authors:  Albert S Jun; Huan Meng; Naren Ramanan; Mario Matthaei; Shukti Chakravarti; Richard Bonshek; Graeme C M Black; Rhonda Grebe; Martha Kimos
Journal:  Hum Mol Genet       Date:  2011-10-14       Impact factor: 6.150

2.  Association of the Gutta-Induced Microenvironment With Corneal Endothelial Cell Behavior and Demise in Fuchs Endothelial Corneal Dystrophy.

Authors:  Viridiana Kocaba; Kishore Reddy Katikireddy; Ilene Gipson; Marianne O Price; Francis W Price; Ula V Jurkunas
Journal:  JAMA Ophthalmol       Date:  2018-08-01       Impact factor: 7.389

3.  Activation of PINK1-Parkin-Mediated Mitophagy Degrades Mitochondrial Quality Control Proteins in Fuchs Endothelial Corneal Dystrophy.

Authors:  Takashi Miyai; Shivakumar Vasanth; Geetha Melangath; Neha Deshpande; Varun Kumar; Anne-Sophie Benischke; Yuming Chen; Marianne O Price; Francis W Price; Ula V Jurkunas
Journal:  Am J Pathol       Date:  2019-07-27       Impact factor: 4.307

Review 4.  Molecular bases of corneal endothelial dystrophies.

Authors:  Thore Schmedt; Mariana Mazzini Silva; Alireza Ziaei; Ula Jurkunas
Journal:  Exp Eye Res       Date:  2011-08-10       Impact factor: 3.467

Review 5.  The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters.

Authors:  Mark D Parker; Walter F Boron
Journal:  Physiol Rev       Date:  2013-04       Impact factor: 37.312

6.  MicroRNA-29b Overexpression Decreases Extracellular Matrix mRNA and Protein Production in Human Corneal Endothelial Cells.

Authors:  Tetsuya Toyono; Tomohiko Usui; Guadalupe Villarreal; Laura Kallay; Mario Matthaei; Lucas M M Vianna; Angela Y Zhu; Masahiko Kuroda; Shiro Amano; Albert S Jun
Journal:  Cornea       Date:  2016-11       Impact factor: 2.651

7.  Fuchs endothelial corneal dystrophy: a neurodegenerative disorder?

Authors:  Angela Y Zhu; Charles G Eberhart; Albert S Jun
Journal:  JAMA Ophthalmol       Date:  2014-04-01       Impact factor: 7.389

8.  The genetics of Fuchs' corneal dystrophy.

Authors:  Benjamin W Iliff; S Amer Riazuddin; John D Gottsch
Journal:  Expert Rev Ophthalmol       Date:  2012-08

9.  L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy.

Authors:  Huan Meng; Mario Matthaei; Narendrakumar Ramanan; Rhonda Grebe; Shukti Chakravarti; Caroline L Speck; Martha Kimos; Neeraj Vij; Charles G Eberhart; Albert S Jun
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-03-28       Impact factor: 4.799

10.  Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy.

Authors:  Mario Matthaei; Jianfei Hu; Huan Meng; Eva-Maria Lackner; Charles G Eberhart; Jiang Qian; Haiping Hao; Albert S Jun
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-03-15       Impact factor: 4.799

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