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RNA-Seq analysis and comparison of corneal epithelium in keratoconus and myopia patients

ABSTRACT: We compared the transcriptome of keratoconus and control epithelium using RNA-Seq. Epithelial tissues were obtained prior to surgery from keratoconus and myopia control patients, undergoing collagen cross-linking and photorefractive keratectomy, respectively. We identified major differences in keratoconus linked to cell-cell communication, cell signalling and cellular metabolism. The genes associated with the Hedgehog, Wnt and Notch1 signaling pathways were down-regulated in keratoconus.

OTHER RELATED OMICS DATASETS IN: PRJNA442592

ORGANISM(S): Homo sapiens

PROVIDER: GSE112155 | GEO | 2018/05/10

REPOSITORIES: GEO

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RNA-Seq analysis and comparison of corneal epithelium in keratoconus and myopia patients

Project description:RNA-Seq analysis and comparison of corneal epithelium in keratoconus and myopia patients

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Differential gene expression profiles of corneal epithelium from Keratoconus patients

Project description:The gene expression profile of various cell signaling pathway associated genes were compared between the different clinical grades of keratoconus corneal epithelium, controls

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Tear protein profile in eyes with keratoconus after one year of intrastromal corneal ring and corneal crosslinking: a pilot study

Project description:Keratoconus (KC) is a corneal ectasia characterized by structural changes, resulting in progressive thinning and biomechanical weakening that can lead to worsening visual acuity due to irregular astigmatism. Corneal collagen Crosslinking (CXL) and Intracorneal Ring Segment (ICRS) are widely used treatments in KC disease, but the alterations they cause in biomechanical mediators are still poorly understood. The aim of this study was to analyze the tear proteome profile before and after treatments to identify biomarkers altered by surgery.

2022-10-14 | PXD035655 | Pride

RNA-Seq analysis and comparison of corneal epithelium in keratoconus and myopia patients.

Project description:Keratoconus is a common degenerative corneal disease that can lead to significant visual morbidity, and both genetic and environmental factors have been implicated in its pathogenesis. We compared the transcriptome of keratoconus and control epithelium using RNA-Seq. Epithelial tissues were obtained prior to surgery from keratoconus and myopia control patients, undergoing collagen cross-linking and photorefractive keratectomy, respectively. We identified major differences in keratoconus linked to cell-cell communication, cell signalling and cellular metabolism. The genes associated with the Hedgehog, Wnt and Notch1 signaling pathways were down-regulated in keratoconus. We also identified plasmolipin and Notch1 as being significantly reduced in keratoconus for both gene and protein expression (p < 0.05). Plasmolipin is a novel protein identified in human corneal epithelium, and has been demonstrated to have a key role in epithelial cell differentiation in other tissues. This study shows altered gene and protein expression of these three proteins in keratoconus, and further studies are clearly warranted to confirm the functional role of these proteins in the pathogenesis of keratoconus.

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Diurnal Retinal and Choroidal Gene Expression Patterns Distinguish Myopia Progression from Myopia Onset

Project description:Following laboratory and clinical findings implicating circadian biology in the pathogenesis of myopia (nearsightedness), we examined gene expression in two crucial tissues controlling post-natal refractive development, the retina and choroid. Inducing unilateral visual form deprivation myopia in young chicks, a widely studied and validated model, we isolated retinal and choroidal tissues every 4 hours over a single day from myopic and contralateral control eyes during a period time when myopia progresses rapidly.

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Transepithelial versus epithelium-off corneal crosslinking for progressive keratoconus.

Project description: Not available

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MiR-204-5p may Regulate Oxidative Stress in Myopia and Myopia-Related Retinopathy

Project description:Introduction: The mechanisms underlying myopia and myopia-related retinopathy remain not fully understood. We proposed to examine the function and underlying mechanisms of miR-204-5p in myopia development. Methods: The miR-204-5p expression level was assessed in the vitreous humor (VH) of a cohort consisting of 11 patients with high myopia (HM) and 16 control patients undergoing retinal surgery. The functional implications of miR-204-5p in ARPE-19 cells were assessed, encompassing cell aggressiveness. Thioredoxin-interacting protein (TXNIP) was found as a possible target of miR-204-5p through mRNA sequencing, and its interaction with miR-204-5p was confirmed employing luciferase assay and western blotting. Furthermore, the miR-204-5p function in regulating oxidative stress was examined by measuring reactive oxygen species (ROS) accumulation. Results: miR-204-5p was found to be significantly reduced in the VH of HM patients. Overexpression of miR-204-5p suppressed cell proliferation, migration, invasion, and apoptosis in ARPE-19 cells. The bioinformatics analysis demonstrated that miR-204-5p can modulate the genes associated with pathways relevant to myopia, including glycosaminoglycan (GAG) degradation, lysosome, and TGF−beta signaling pathway. The direct targeting of miR-204-5p on TXNIP has been confirmed through validation, and its downregulation mediated the miR-204-5p impacts on ARPE-19 cells. Moreover, miR-204-5p overexpression significantly reduced ROS accumulation by targeting TXNIP. Conclusion: Our findings revealed the possible contribution of the miR-204-5p/TXNIP axis in myopia development by regulating oxidative stress, which may provide new targets and novel therapeutic strategies to combat this prevalent and debilitating condition.

2024-01-26 | GSE253960 | GEO

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas

Project description:Comparative transcriptome between Keratoconus and control corneas

2011-08-17 | E-MEXP-2777 | biostudies-arrayexpress

Correlation between corneal demarcation line depth in epithelium-off and trans-epithelium accelerated corneal cross linking and keratoconus progression.

Project description:AimTo compare corneal demarcation line (DL) depth in both accelerated epithelium-off and trans-epithelium cross linking (CXL) using anterior segment optical coherence tomography (AS-OCT) and its relation to maximum keratometry (Kmax) progression in both techniques.MethodsA prospective comparative interventional study where patients with mild to moderate keratoconus (KC) were classified into two groups: accelerated epithelium-off and trans-epithelium CXL based on corneal pachymetry. Assessment of corneal DL depth was carried out after 3mo by AS-OCT. Kmax readings were evaluated after one year follow up using the Scheimpflug imaging system.ResultsStudy included 74 eyes of 44 patients. Group A underwent epithelium-off CXL (41 eyes), while Group B underwent trans-epithelium CXL (33 eyes). At 3mo follow up, mean corneal DL depth in Group A was 219.9±58.4 µm while in Group B was 127.2±7.8 µm (P<0.05). The mean Kmax changed from 51.9±3.9 to 51.3±4.2 diopters in Group A and from 53.1±4.1 to 53.6±5 diopters in Group B with insignificant difference in Kmax changes in either group (P>0.05). In addition, no significant change in corneal pachymetry was found in both groups (mean change at 1y: 6.4±4.7 and -10.1±2.3 µm in Groups A and B respectively).ConclusionDespite a significantly deeper corneal DL depth created by accelerated epithelium-off CXL technique compared to accelerated trans-epithelium CXL, there is no significant impact on keratoconus progression.

| S-EPMC7270254 | biostudies-literature

Oxidative stress induces dysregulated autophagy in corneal epithelium of keratoconus patients.

Project description:Oxidative stress is one of the key factors that contributes to the pathogenesis of keratoconus (KC). Macroautophagy is a vital cellular mechanism that is activated in response to oxidative stress. The aim of this study was to understand the role of the autophagic lysosomal pathway in the oxidative damage of KC corneal epithelium and the human corneal epithelial cell line (HCE).The corneal epithelium was collected from 78 KC patients undergoing corneal cross-linking or topography guided photorefractive keratectomy. We performed microarray, qPCR and western blot analysis for the expression of autophagy markers on this epithelium from patients with different clinical grades of KC. A differential expression pattern of autophagy related markers was observed in the diseased corneal cone-specific epithelium compared to matched peripheral epithelium from KC patients with increasing clinical severity. Human corneal epithelial cells exposed to oxidative stress were analyzed for the expression of key proteins associated with KC pathogenesis and the autophagic pathway. Oxidative stress led to an increase in reactive oxygen species and an imbalanced expression of autophagy markers in the HCE cells. Further, reduced levels of Akt/p70S6 Kinase, which is a known target of the mTOR pathway was observed in HCE cells under oxidative stress as well as in KC epithelium. Our results suggest that an altered expression of proteins suggestive of defective autophagy and is a consequence of oxidative damage. This could play a possible role in the pathogenesis of KC.

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