Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy

Investigative Ophthalmology & Visual Science
Naoki OkumuraNoriko Koizumi

Abstract

CTG trinucleotide repeat (TNR) expansion is frequently found in transcription factor 4 (TCF4) in Fuchs' endothelial corneal dystrophy (FECD), though the effect of TNR expansion on FECD pathophysiology remains unclear. The purpose of this study was to evaluate the effect of TNR expansion on TCF4 expression in corneal endothelium of patients with FECD. Peripheral blood DNA and Descemet membrane with corneal endothelium were obtained from 203 German patients with FECD. The CTG TNR repeat length in TCF4 was determined by short tandem repeat (STR) assays and Southern blotting using genomic DNA. Genotyping of rs613872 in TCF4 was performed by PCR. TCF4 mRNA levels in corneal endothelium were evaluated by quantitative PCR using three different probes. Control corneal endothelial samples were obtained from 35 non-FECD subjects. The STR assay and Southern blotting showed that 162 of the 203 patients with FECD (80%) harbored CTG trinucleotide repeat lengths larger than 50. Quantitative PCR using all three probes demonstrated that TCF4 mRNA is significantly upregulated in the corneal endothelium of patients with FECD, regardless of the presence of TNR expansion. However, the length of the TNR tended to show a positive correlation with TCF...Continue Reading

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Citations

Dec 2, 2020·Investigative Ophthalmology & Visual Science·Marcus WalcklingSimone Baltrusch
May 22, 2020·Progress in Retinal and Eye Research·Stephan Ong ToneUla V Jurkunas
Feb 18, 2021·Experimental Eye Research·Lauren J JeangEdgar M Espana
Aug 1, 2020·Progress in Retinal and Eye Research·Michael P FautschAlice E Davidson

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