Ontology highlight
ABSTRACT:
PROVIDER: PRJNA524323 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR13574907_1.fastq.gz | Fastqsanger.gz | |||
| SRR13574907_2.fastq.gz | Fastqsanger.gz | |||
| SRR13574908_1.fastq.gz | Fastqsanger.gz | |||
| SRR13574908_2.fastq.gz | Fastqsanger.gz | |||
| SRR13574909_1.fastq.gz | Fastqsanger.gz |
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Project description:In our study, NAMPT was found downregulated In the corneal endothelium of patients with Fuchs endothelial corneal dystrophy. In this study, NAMPT was knocked down in the human corneal endothelial cell line (B4G12), and significant decreases in corneal endothelial cell viability, as well as the activation of immune-related pathways and extracellular matrix remodeling pathways, were observed. These changes are consistent with the expression profile of corneal endothelium in FECD patients, suggesting that downregulation of NAMPT plays an important role in the pathogenesis of FECD.
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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:Transcriptome dataset of human corneal endothelium derived from patients with Fuchs endothelial corneal dystrophy
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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:We report differential gene expression profiles of the corneal endothelial cells from Fuchs dystrophy patients with or without the TCF4 gene mutation
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Project description:Sex differences have been described in several corneal diseases such as Fuchs endothelial corneal dystrophy and keratoconus, with estrogens implicated in the induction of these differences. Here, we report the identification of sex differences in a cohort of 161 individuals with Corneal Hereditary Endothelial Dystrophy (CHED), a rare corneal endothelial dystrophy associated with biallelic SLC4A11 gene mutations, and in a Slc4a11-/- mouse model of CHED. Male sex is associated with more severe corneal edema, the characteristic clinical feature of CHED, in affected individuals and Slc4a11-/- mice. The corneal endothelium in male Slc4a11-/- mice demonstrates increased levels of oxidative stress compared to female mice, evidenced by age-dependent higher levels of glucose- and glutamine-derived mitochondrial superoxide. Removal of gonadal hormones in Slc4a11-/- mice via gonadectomy increases corneal edema in female mice, suggesting a protective role for ovarian hormones. Transcriptomic analysis of corneal endothelium and body composition analysis in Slc4a11+/+ and Slc4a11-/- mice suggest that estrogens play a role in promoting corneal endothelial utilization of lipids via β-oxidation as an alternative energy source in the setting of decreased SLC4A11, thereby reducing oxidative stress from glucose and glutamine metabolism.
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Project description:Fuchs endothelial corneal dystrophy (FECD) is a vision impairing pathology affecting the endothelial cells of the cornea. To better understand the disease, we developed a method to cultivate FECD cells isolated from surgical specimens. Using gene profiling, we compared the mRNA profiles of passage 2 FECD cells with passage 2 non-pathological corneal endothelial cells isolated from eye bank donor corneas.
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