| 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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| 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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