The effect of TGC triplet repeat expansion on the pathophysiology of Fuchs endothelial corneal dystrophy

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K10885
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Doshisha University
• Principal Investigator: Okumura Naoki 同志社大学, 生命医科学部, 准教授 (10581499)
• Research Collaborator: KOIZUMI Noriko ; KINOSHITA Shigeru ; Baratz Keith H. ; Schlötzer-Schrehardt Ursula ; Kruse Friedrich ; Quantock Andrew ; NAKANO Masakazu
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: フックス角膜内皮ジストロフィ

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.

Free Research Field

眼科学