The effect of TGC triplet repeat expansion on the pathophysiology of Fuchs endothelial corneal dystrophy
| Project/Area Number |
15K10885
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Doshisha University |
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Principal Investigator |
Okumura Naoki 同志社大学, 生命医科学部, 准教授 (10581499)
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| Research Collaborator |
KOIZUMI Noriko
KINOSHITA Shigeru
Baratz Keith H.
Schlötzer-Schrehardt Ursula
Kruse Friedrich
Quantock Andrew
NAKANO Masakazu
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Keywords | フックス角膜内皮ジストロフィ / 角膜内皮 / TCF4 |
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| Outline of Final Research Achievements |
Fuchs endothelial corneal dystrophy (FECD) is a hereditary disease with a typically autosomal dominant pattern of inheritance, though the genetic basis is not fully elucidated. Recently, it was reported that expansion of a trinucleotide repeat (TNR) in third intron of TCF4 was strongly associated with FECD, suggesting that FECD can be a TNR disorder. In the current study, we demonstrated that TCF4 mRNA is significantly upregulated in the corneal endothelium of patients with FECD regardless of the presence of TNR expansion by using quantitative PCR. We also evaluated the effect of TCF4 on pathophysiology of FECD by using genome editing.
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Report
(4 results)
Research Products
(50 results)
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[Journal Article] Sustained activation of the unfolded protein response induces cell death in Fuchs endothelial corneal dystrophy2017
Author(s)
Okumura N, Kitahara M, Okuda H, Hashimoto K, Ueda E, Nakahara N, Kinoshita S, Young RD, Quantock AJ, Tourtas T, Schlötzer-Schrehardt U, Kruse FE, Koizumi N
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Journal Title
Invest Ophthalmol
Volume: 58（9）
Issue: 9
Pages: 3697-3707
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Activation of TGF-β signaling induces cell death via the unfolded protein response in Fuchs endothelial corneal dystrophy2017
Author(s)
Okumura N, Hashimoto K, Kitahara M, Okuda H, Ueda E, Watanabe K, Nakahara M, Sato T, Kinoshita S, Tourtas T, Schlötzer-Schrehardt U, Kruse FE, Koizumi N
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Journal Title
Sci Rep
Volume: 7（1）
Issue: 1
Pages: 6801-6801
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Rho kinase inhibitor enables cell-based therapy for corneal endothelial dysfunction.2016
Author(s)
Okumura N, Sakamoto Y, Fujii K, Kitano J, Nakano S, Tsujimoto Y, Nakamura S, Ueno M, Hagiya M, Hamuro J, Matsuyama A, Suzuki S, Shiina T, Kinoshita S, Koizumi N
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Journal Title
Sci Rep.
Volume: 18;6
Issue: 1
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs’ Endothelial Corneal Dystrophy in Japanese2015
Author(s)
Nakano M, Okumura N, Nakagawa H, Koizumi N, Ikeda Y, Ueno M, Yoshii K, Adachi H, Aleff R, Butz M, Highsmith E, Tashiro K, Wieben E, Kinoshita S, Baratz K
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Journal Title
Invest Ophthalmol Vis Sci
Volume: 56(8)
Pages: 4865-4869
Related Report
Peer Reviewed
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[Journal Article] Involvement of ZEB1 and Snail1 in excessive production of extracellular matrix in the Fuchs endothelial corneal dystrophy2015
Author(s)
Okumura N, Minamiyama R, Ho L, Kay EP, Kawasaki S, Tourtas T, Schlötzer-Schrehardt U, KruseF, Young RD, Quantock AJ, Kinoshita S, Koizumi N
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Journal Title
Laboratory Investigation
Volume: 95
Issue: 11
Pages: 1291-1304
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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