RNA-Seq–based transcriptome analysis of corneal endothelial cells derived from patients with Fuchs endothelial corneal dystrophy

Fuchs endothelial corneal dystrophy (FECD) is the most common inherited corneal disease. Fibrillar focal excrescences called guttae and corneal edema due to corneal endothelial cell death result in progressive vision loss. Multiple genetic variants have been reported, but the pathogenesis of FECD is...

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Published inScientific reports Vol. 13; no. 1; pp. 8647 - 13
Main Authors Nakagawa, Tatsuya, Tokuda, Yuichi, Nakano, Masakazu, Komori, Yuya, Hanada, Naoya, Tourtas, Theofilos, Schlötzer-Schrehardt, Ursula, Kruse, Friedrich, Tashiro, Kei, Koizumi, Noriko, Okumura, Naoki
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 27.05.2023
Nature Publishing Group
Nature Portfolio
Subjects
631/208/199
631/208/2489
692/308/2056
Apoptosis
Cell death
Cornea
Cornea - pathology
Corneal dystrophy
Dystrophy
Edema
Endothelial cells
Endothelial Cells - metabolism
Endothelium
Endothelium, Corneal - pathology
Extracellular matrix
Eye diseases
Fuchs' Endothelial Dystrophy - metabolism
Gene expression
Genetic diversity
Genetic variance
Humanities and Social Sciences
Humans
multidisciplinary
Oxidative stress
RNA-Seq
Science
Science (multidisciplinary)
Transcriptomes
Transcriptomics
Online AccessGet full text
ISSN2045-2322
2045-2322
DOI10.1038/s41598-023-35468-y

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Abstract Fuchs endothelial corneal dystrophy (FECD) is the most common inherited corneal disease. Fibrillar focal excrescences called guttae and corneal edema due to corneal endothelial cell death result in progressive vision loss. Multiple genetic variants have been reported, but the pathogenesis of FECD is not fully understood. In this study, we used RNA-Seq to analyze differential gene expression in the corneal endothelium obtained from patients with FECD. Differential expression analysis of transcriptomic profiles revealed that expression of 2366 genes (1092 upregulated and 1274 downregulated genes) was significantly altered in the corneal endothelium of patients with FECD compared to healthy subjects. Gene ontology analysis demonstrated an enrichment of genes involved in extracellular matrix (ECM) organization, response to oxidative stress, and apoptotic signaling. Several pathway analyses consistently indicated the dysregulation of ECM-associated pathways. Our differential gene expression findings support the previously proposed underlying mechanisms, including oxidative stress and apoptosis of endothelial cells, as well as the phenotypic clinical FECD hallmark of ECM deposits. Further investigation focusing on differentially expressed genes related to these pathways might be beneficial for elucidating mechanisms and developing novel therapies.
AbstractList Fuchs endothelial corneal dystrophy (FECD) is the most common inherited corneal disease. Fibrillar focal excrescences called guttae and corneal edema due to corneal endothelial cell death result in progressive vision loss. Multiple genetic variants have been reported, but the pathogenesis of FECD is not fully understood. In this study, we used RNA-Seq to analyze differential gene expression in the corneal endothelium obtained from patients with FECD. Differential expression analysis of transcriptomic profiles revealed that expression of 2366 genes (1092 upregulated and 1274 downregulated genes) was significantly altered in the corneal endothelium of patients with FECD compared to healthy subjects. Gene ontology analysis demonstrated an enrichment of genes involved in extracellular matrix (ECM) organization, response to oxidative stress, and apoptotic signaling. Several pathway analyses consistently indicated the dysregulation of ECM-associated pathways. Our differential gene expression findings support the previously proposed underlying mechanisms, including oxidative stress and apoptosis of endothelial cells, as well as the phenotypic clinical FECD hallmark of ECM deposits. Further investigation focusing on differentially expressed genes related to these pathways might be beneficial for elucidating mechanisms and developing novel therapies.
Abstract Fuchs endothelial corneal dystrophy (FECD) is the most common inherited corneal disease. Fibrillar focal excrescences called guttae and corneal edema due to corneal endothelial cell death result in progressive vision loss. Multiple genetic variants have been reported, but the pathogenesis of FECD is not fully understood. In this study, we used RNA-Seq to analyze differential gene expression in the corneal endothelium obtained from patients with FECD. Differential expression analysis of transcriptomic profiles revealed that expression of 2366 genes (1092 upregulated and 1274 downregulated genes) was significantly altered in the corneal endothelium of patients with FECD compared to healthy subjects. Gene ontology analysis demonstrated an enrichment of genes involved in extracellular matrix (ECM) organization, response to oxidative stress, and apoptotic signaling. Several pathway analyses consistently indicated the dysregulation of ECM-associated pathways. Our differential gene expression findings support the previously proposed underlying mechanisms, including oxidative stress and apoptosis of endothelial cells, as well as the phenotypic clinical FECD hallmark of ECM deposits. Further investigation focusing on differentially expressed genes related to these pathways might be beneficial for elucidating mechanisms and developing novel therapies.
Fuchs endothelial corneal dystrophy (FECD) is the most common inherited corneal disease. Fibrillar focal excrescences called guttae and corneal edema due to corneal endothelial cell death result in progressive vision loss. Multiple genetic variants have been reported, but the pathogenesis of FECD is not fully understood. In this study, we used RNA-Seq to analyze differential gene expression in the corneal endothelium obtained from patients with FECD. Differential expression analysis of transcriptomic profiles revealed that expression of 2366 genes (1092 upregulated and 1274 downregulated genes) was significantly altered in the corneal endothelium of patients with FECD compared to healthy subjects. Gene ontology analysis demonstrated an enrichment of genes involved in extracellular matrix (ECM) organization, response to oxidative stress, and apoptotic signaling. Several pathway analyses consistently indicated the dysregulation of ECM-associated pathways. Our differential gene expression findings support the previously proposed underlying mechanisms, including oxidative stress and apoptosis of endothelial cells, as well as the phenotypic clinical FECD hallmark of ECM deposits. Further investigation focusing on differentially expressed genes related to these pathways might be beneficial for elucidating mechanisms and developing novel therapies.Fuchs endothelial corneal dystrophy (FECD) is the most common inherited corneal disease. Fibrillar focal excrescences called guttae and corneal edema due to corneal endothelial cell death result in progressive vision loss. Multiple genetic variants have been reported, but the pathogenesis of FECD is not fully understood. In this study, we used RNA-Seq to analyze differential gene expression in the corneal endothelium obtained from patients with FECD. Differential expression analysis of transcriptomic profiles revealed that expression of 2366 genes (1092 upregulated and 1274 downregulated genes) was significantly altered in the corneal endothelium of patients with FECD compared to healthy subjects. Gene ontology analysis demonstrated an enrichment of genes involved in extracellular matrix (ECM) organization, response to oxidative stress, and apoptotic signaling. Several pathway analyses consistently indicated the dysregulation of ECM-associated pathways. Our differential gene expression findings support the previously proposed underlying mechanisms, including oxidative stress and apoptosis of endothelial cells, as well as the phenotypic clinical FECD hallmark of ECM deposits. Further investigation focusing on differentially expressed genes related to these pathways might be beneficial for elucidating mechanisms and developing novel therapies.
ArticleNumber 8647
Author Koizumi, Noriko
Okumura, Naoki
Nakagawa, Tatsuya
Hanada, Naoya
Tashiro, Kei
Nakano, Masakazu
Komori, Yuya
Schlötzer-Schrehardt, Ursula
Tokuda, Yuichi
Kruse, Friedrich
Tourtas, Theofilos
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  surname: Tokuda
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  organization: Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine
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  organization: Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University
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  surname: Koizumi
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/37244951$$D View this record in MEDLINE/PubMed
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Snippet Fuchs endothelial corneal dystrophy (FECD) is the most common inherited corneal disease. Fibrillar focal excrescences called guttae and corneal edema due to...
Abstract Fuchs endothelial corneal dystrophy (FECD) is the most common inherited corneal disease. Fibrillar focal excrescences called guttae and corneal edema...
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SubjectTerms 631/208/199
631/208/2489
692/308/2056
Apoptosis
Cell death
Cornea
Cornea - pathology
Corneal dystrophy
Dystrophy
Edema
Endothelial cells
Endothelial Cells - metabolism
Endothelium
Endothelium, Corneal - pathology
Extracellular matrix
Eye diseases
Fuchs' Endothelial Dystrophy - metabolism
Gene expression
Genetic diversity
Genetic variance
Humanities and Social Sciences
Humans
multidisciplinary
Oxidative stress
RNA-Seq
Science
Science (multidisciplinary)
Transcriptomes
Transcriptomics
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Title RNA-Seq–based transcriptome analysis of corneal endothelial cells derived from patients with Fuchs endothelial corneal dystrophy
URI https://link.springer.com/article/10.1038/s41598-023-35468-y
https://www.ncbi.nlm.nih.gov/pubmed/37244951
https://www.proquest.com/docview/2819770757
https://www.proquest.com/docview/2820026980
https://pubmed.ncbi.nlm.nih.gov/PMC10224979
https://doaj.org/article/31aea138aba940c484389fee5bc6da67
Volume 13
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