Investigative Ophthalmology & Visual Science Cover Image for Volume 64, Issue 8
June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
RNA Sequencing Analysis of Corneal Endothelial Cells Derived from Fuchs Endothelial Corneal Dystrophy Patients with and without Trinucleotide Repeat Expansion in TCF4
Yoshiaki Toyokawa; Naoki Okumura; Tatsuya Nakagawa; Ayana Tateishi; Theofilos Tourtas; Ursula Schlötzer-Schrehardt; Friedrich E. Kruse; Yuichi Tokuda; Masakazu Nakano; Noriko Koizumi
Author Affiliations & Notes
  • Yoshiaki Toyokawa
    Department of Biomedical Engineering, Doshisha University, Kyoto, Japan
  • Naoki Okumura
    Department of Biomedical Engineering, Doshisha University, Kyoto, Japan
  • Tatsuya Nakagawa
    Department of Biomedical Engineering, Doshisha University, Kyoto, Japan
  • Ayana Tateishi
    Department of Biomedical Engineering, Doshisha University, Kyoto, Japan
  • Theofilos Tourtas
    Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany
  • Ursula Schlötzer-Schrehardt
    Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany
  • Friedrich E. Kruse
    Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany
  • Yuichi Tokuda
    Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan
  • Masakazu Nakano
    Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan
  • Noriko Koizumi
    Department of Biomedical Engineering, Doshisha University, Kyoto, Japan
  • Footnotes
    Commercial Relationships   Yoshiaki Toyokawa None; Naoki Okumura None; Tatsuya Nakagawa None; Ayana Tateishi None; Theofilos Tourtas None; Ursula Schlötzer-Schrehardt None; Friedrich Kruse None; Yuichi Tokuda None; Masakazu Nakano None; Noriko Koizumi None
  • Footnotes
    Support  JSPS KAKENHI Grant Numbers 22K09824 and 21K09731
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 640. doi:
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      Yoshiaki Toyokawa, Naoki Okumura, Tatsuya Nakagawa, Ayana Tateishi, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich E. Kruse, Yuichi Tokuda, Masakazu Nakano, Noriko Koizumi; RNA Sequencing Analysis of Corneal Endothelial Cells Derived from Fuchs Endothelial Corneal Dystrophy Patients with and without Trinucleotide Repeat Expansion in TCF4. Invest. Ophthalmol. Vis. Sci. 2023;64(8):640.

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Abstract

Purpose : Patients with Fuchs endothelial corneal dystrophy (FECD) frequently harbor expansion of trinucleotide repeat (TNR) in TCF4. However, the difference between patients with (RE+) and without (RE-) TNR expansion is still unclear. The aim of this present study was to evaluate the gene expression profiles of RE+ and RE- patients with FECD.

Methods : Corneal endothelial cells (CECs) were obtained from patients with FECD (RE+ (n=6) and RE- (n=4)) and non-FECD donor corneas (n=7). RNA Sequencing (RNA-Seq) analysis was performed using the generated libraries from CECs. Genes with the criteria of adjusted P-value (< 0.05) and Log2 Fold Change (≥ 1.0 or ≤ -1.0) were considered as differentially expressed genes (DEGs) between non-FECD and each FECD group. DEGs between RE+ and RE- groups were also investigated. Enrichment analyses of gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway were conducted.

Results : Compared to non-FECD, 1,666 and 1,881 DEGs were identified in the RE+ and RE- groups, respectively. Among those DEGs, 996 genes overlapped in the RE+ and RE- groups. Only 7 DEGs were identified between RE+ and RE- groups. GO analysis indicated the enrichment of extracellular matrix (ECM), oxidative stress, epithelial-mesenchymal transition, and endoplasmic response to reticulum stress in both the RE+ and RE- groups. KEGG pathway analysis demonstrated the involvement of the ECM-receptor interaction, phosphatidylinositol 3-kinase (PI3K)/Akt, and mitogen-activated protein kinase (MAPK) signaling pathways in RE+ and RE- groups.

Conclusions : Regardless of the TNR expansion, enrichment analysis shows the involvement of ECM and oxidative stress in CECs of patients with FECD. Current RNA-Seq data shows the high similarity of gene expression profile between RE+ and RE-.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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Copyright © 2025 Association for Research in Vision and Ophthalmology.
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