Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA85221 | ENA |
REPOSITORIES: ENA
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Project description:PURPOSE: To compare the gene expression profiles of normal human corneal endothelium with Fuchs' corneal endothelium, by using serial analysis of gene expression (SAGE). METHODS: Three pairs of normal human corneas were obtained from eye banks. Thirteen bisected Fuchs' corneal buttons were processed at the time of corneal transplantation. The endothelia of normal and Fuchs'-affected corneas were stripped, and total RNA was isolated. Serial analysis of gene expression (SAGE) was performed to identify and quantify gene transcripts. Genes over- and underexpressed by Fuchs' endothelium were limited to P < 0.01 by the method of Audic and Claverie. RESULTS: A total of 19,136 tags were identified with 9,530 from normal and 9,606 from Fuchs' endothelium. The expression of 18 transcripts was upregulated, and 36 transcripts were downregulated in Fuchs' endothelium compared with normal tissue. Upregulated transcripts included serum amyloid A1 and A2, metallothionein, and apolipoprotein D. Of the downregulated transcripts, 26 matched known genes, 3 matched expressed sequence tags (ESTs), and 7 were unknown to current databases. One downregulated transcript involved a newly reported bicarbonate transporter. Decreased transcripts related to antioxidants and proteins conferring protection against toxic stress were noted in Fuchs' versus normal endothelium including nuclear ferritin, glutathione S-transferase-pi, and heat shock 70-kDa protein. Nine different SAGE tags matching mitochondrial sequences accounted for 25% of the ESTs that were decreased in Fuchs' endothelium. CONCLUSIONS: SAGE analysis comparing normal to Fuchs' endothelium demonstrates diminished expression of mitochondrial, pump function, and antiapoptotic cell defense genes. A complete report of gene expression profiles of normal human corneal endothelium can be found in PMID 12583793. Keywords: other
2003-07-16 | GSE505 | GEO
Project description:Transcriptome dataset of human corneal endothelium derived from patients with Fuchs endothelial corneal dystrophy
| PRJDB14706 | ENA
Project description:Fuchs’ endothelial corneal dystrophy is major corneal disorder in the western world affecting the innermost part of the cornea, which leads to visual impairment. The morphological changes observed in Fuchs’ endothelial corneal dystrophy is well described, however, much less in known of the pathology at the molecular level. As the morphological changes observed in the cornea is profound in the extracellular matrix we sought to determine in protein profiles and changes herein in the Descement’s membrane and endothelium layer of Fuchs’ endothelial conrneal dystrophy patients when compared to healthy control tissue. Using the extracted ion chromatogram label-free MS based quantification method we quantified approximately the 50 most abundant proteins of the Descemet’s membrane and endothelial layer in in patient and control tissue. In addition, using the isobaric tag for relative and absolute quantification MS method resulted in a total of 22 regulated proteins of which the majority were extracellular proteins known to be involved in proper assembly and modulation of the basement membrane in other tissues. Many of the regulated proteins were furthermore among the most abundant proteins quantified. The two MS methods performed here suggest altered arrangement of the extracellular matrix in Fuchs’ endothelial corneal dystrophy and provide new candidate proteins that may be involved in molecular mechanism of this disease.
2014-05-27 | PXD000746 | Pride
Project description:Identification of Circulating Fibrocytes and Dendritic Derivatives in Corneal Endothelium of Patients with Fuchs' Dystrophy [microarray expression analysis]
| PRJNA304442 | ENA
Project description:RNA Missplicing in Fuchs Endothelial Corneal Dystrophy
| PRJNA395734 | ENA
Project description:We report differential gene expression profiles of the corneal endothelial cells from Fuchs dystrophy patients with or without the TCF4 gene mutation
2025-12-09 | GSE285203 | GEO
Project description:Fuchs endothelial corneal dystrophy (FECD) is the leading indication of corneal transplantation worldwide and the focus of pathogenesis has been on the corneal endothelium. Instead of cellular analysis, we aimed to identify the protein changes of aqueous humor (AH) in patients with FECD and investigate in more detail the relationship between AH and corneal endothelium. We collected 13 AH samples of 7 early/middle stage FECD patients and 6 control patients during routine cataract surgery. The proteomes of AH were profiled with the 4D label-free quantitative tandem mass spectrometry. Among 1613 identified proteins, 44 proteins exhibited above two-fold upregulation in the AH of FECD patients than control patients. Gene ontology (GO) analysis showed the enrichment of mitochondrial components, which were further validated by ELISA of mitochondrial proteins SLC25A3, PC, and PARK7. Moreover, immunofluorescence staining and ultrastructural observation were conducted in clinical specimens, mouse corneal endothelium and cultured human corneal endothelial cells (HCECs). The mitochondrial protein TOM20 was reduced in the FECD corneal endothelium, accompanied by damaged mitochondrial ejection. We next isolated extracellular vesicles by ultracentrifugation from HCECs and revealed that the mitochondria copy numbers were significantly increased in UVA-irradiated cells. Inhibition of exosome biogenesis aggravated cell death and mitochondrial membrane potential impairment in FECD endothelial cells. Taken together, our results provided novel insights into the proteome characterization of the AH from FECD patients and offered new perspective to deepen the impaired mitochondrial quality control in the pathogenesis of FECD.
2026-01-23 | PXD065309 | Pride
Project description:GWAS of Fuchs Endothelial Corneal Dystrophy at CIDR
| PRJNA76033 | ENA