scholarly journals Investigation of Key Signaling Pathways Associating miR-204 and Common Retinopathies

2021 ◽  
Vol 2021 ◽  
pp. 1-13
Author(s):  
Ahmad Bereimipour ◽  
Leila Satarian ◽  
Sara Taleahmad
Keyword(s):  
Gene Expression ◽  
Macular Degeneration ◽  
Signaling Pathways ◽  
Target Genes ◽  
Treatment Strategies ◽  
Gene Expression Omnibus ◽  
Age Related Macular Degeneration ◽  
Creb Phosphorylation ◽  
Age Related ◽  
Regulated Gene Expression

MicroRNAs are a large group of small noncoding RNAs that work in multiple cellular pathways. miR-204, as one of the key axes in the development, maintenance, and pathogenesis of the retina, plays several roles by modulating its target genes. This study was aimed at evaluating the target genes of miR-204 involved in the development and progression of common retinopathies such as glaucoma, retinoblastoma, and age-related macular degeneration. In this study, three datasets related to retinopathies (GSE50195, GSE27276, and GSE97508) were selected from Gene Expression Omnibus. miR-204 target genes were isolated from TargeScan. The shares between retinopathy and miR-204 target genes were then categorized. Using Enrichr and STRING, we highlighted the signaling pathways and the relationships between the proteins. SHC1 events in ERBB2, adherent junction’s interactions, NGF signaling via TRKA from the plasma membrane, IRF3-mediated activation of type 1 IFN, pathways in upregulated genes and G0 and early G1, RORA-activated gene expression, PERK-regulated gene expression, adherent junction’s interactions, and CREB phosphorylation pathways in downregulated genes were identified in glaucoma, retinoblastoma, and age-related macular degeneration. WEE1, SMC2, HMGB1, RRM2, and POLA1 proteins were also observed to be involved in the progression and invasion of retinoblastoma; SLC24A2 and DTX4 in age-related macular degeneration; and EPHB6, EFNB3, and SHC1 in glaucoma. Continuous bioinformatics analysis has shown that miR-204 has a significant presence and expression in retinal tissue, and approximately 293 genes are controlled and regulated by miR-204 in this tissue; also, target genes of miR-204 have the potential to develop various retinopathies; thus, a study of related target genes can provide appropriate treatment strategies in the future.

scholarly journals Effects of intravitreal ranibizumab on the untreated eye and systemic gene expression profile in age-related macular degeneration [Corrigendum]

2016 ◽  
pp. 775
Author(s):  
Katarzyna Michalska-Malecka ◽  
Adam Kabiesz ◽  
Małgorzata Kimsa ◽  
Barbara Strzałka-Mrozik ◽  
Maria Formińska-Kapuścik ◽  
...  
Keyword(s):  
Gene Expression ◽  
Macular Degeneration ◽  
Gene Expression Profile ◽  
Expression Profile ◽  
Age Related Macular Degeneration ◽  
Intravitreal Ranibizumab ◽  
Age Related

scholarly journals Effects of intravitreal ranibizumab on the untreated eye and systemic gene expression profile in age-related macular degeneration

2016 ◽  
pp. 357 ◽  
Author(s):  
Katarzyna Michalska-Malecka ◽  
Adam Kabiesz ◽  
Małgorzata Kimsa ◽  
Barbara Strzałka-Mrozik ◽  
Maria Formińska-Kapuścik ◽  
...  
Keyword(s):  
Gene Expression ◽  
Macular Degeneration ◽  
Gene Expression Profile ◽  
Expression Profile ◽  
Age Related Macular Degeneration ◽  
Intravitreal Ranibizumab ◽  
Age Related

scholarly journals Development of a Deep-Learning-Based Artificial Intelligence Tool for Differential Diagnosis between Dry and Neovascular Age-Related Macular Degeneration

Diagnostics ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. 261
Author(s):  
Tae-Young Heo ◽  
Kyoung Min Kim ◽  
Hyun Kyu Min ◽  
Sun Mi Gu ◽  
Jae Hyun Kim ◽  
...  
Keyword(s):  
Artificial Intelligence ◽  
Differential Diagnosis ◽  
Deep Learning ◽  
Macular Degeneration ◽  
Data Augmentation ◽  
Treatment Strategies ◽  
Image Data ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Leave One Out

The use of deep-learning-based artificial intelligence (AI) is emerging in ophthalmology, with AI-mediated differential diagnosis of neovascular age-related macular degeneration (AMD) and dry AMD a promising methodology for precise treatment strategies and prognosis. Here, we developed deep learning algorithms and predicted diseases using 399 images of fundus. Based on feature extraction and classification with fully connected layers, we applied the Visual Geometry Group with 16 layers (VGG16) model of convolutional neural networks to classify new images. Image-data augmentation in our model was performed using Keras ImageDataGenerator, and the leave-one-out procedure was used for model cross-validation. The prediction and validation results obtained using the AI AMD diagnosis model showed relevant performance and suitability as well as better diagnostic accuracy than manual review by first-year residents. These results suggest the efficacy of this tool for early differential diagnosis of AMD in situations involving shortages of ophthalmology specialists and other medical devices.

scholarly journals Family-based exome sequencing identifies rare coding variants in age-related macular degeneration

2020 ◽  
Vol 29 (12) ◽  
pp. 2022-2034 ◽  
Author(s):  
Rinki Ratnapriya ◽  
İlhan E Acar ◽  
Maartje J Geerlings ◽  
Kari Branham ◽  
Alan Kwong ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Exome Sequencing ◽  
Target Genes ◽  
Rare Variants ◽  
Age Related Macular Degeneration ◽  
Genome Wide Association Studies ◽  
Age Related ◽  
Genome Wide ◽  
Candidate Target ◽  
Coding Variants

Abstract Genome-wide association studies (GWAS) have identified 52 independent variants at 34 genetic loci that are associated with age-related macular degeneration (AMD), the most common cause of incurable vision loss in the elderly worldwide. However, causal genes at the majority of these loci remain unknown. In this study, we performed whole exome sequencing of 264 individuals from 63 multiplex families with AMD and analyzed the data for rare protein-altering variants in candidate target genes at AMD-associated loci. Rare coding variants were identified in the CFH, PUS7, RXFP2, PHF12 and TACC2 genes in three or more families. In addition, we detected rare coding variants in the C9, SPEF2 and BCAR1 genes, which were previously suggested as likely causative genes at respective AMD susceptibility loci. Identification of rare variants in the CFH and C9 genes in our study validated previous reports of rare variants in complement pathway genes in AMD. We then extended our exome-wide analysis and identified rare protein-altering variants in 13 genes outside the AMD-GWAS loci in three or more families. Two of these genes, SCN10A and KIR2DL4, are of interest because variants in these genes also showed association with AMD in case-control cohorts, albeit not at the level of genome-wide significance. Our study presents the first large-scale, exome-wide analysis of rare variants in AMD. Further independent replications and molecular investigation of candidate target genes, reported here, would assist in gaining novel insights into mechanisms underlying AMD pathogenesis.

scholarly journals Management of Neovascular Age-Related Macular Degeneration in Clinical Practice: Initiation, Maintenance, and Discontinuation of Therapy

2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
Pearse A. Keane ◽  
Adnan Tufail ◽  
Praveen J. Patel
Keyword(s):  
Clinical Practice ◽  
Macular Degeneration ◽  
Treatment Strategies ◽  
Age Related Macular Degeneration ◽  
Vascular Endothelial ◽  
Future Directions ◽  
Age Related ◽  
Endothelial Growth Factor ◽  
Current Guidelines ◽  
Review Current

Neovascular age-related macular degeneration (AMD) is a leading cause of irreversible visual loss in elderly populations. In recent years, pharmacological inhibition of vascular endothelial growth factor (VEGF), via intravitreal injection of ranibizumab (Lucentis) or bevacizumab (Avastin), has offered the first opportunity to improve visual outcomes in patients diagnosed with this disorder. In this paper, we provide recommendations on how bevacizumab and ranibizumab may be best applied in current clinical practice, with an emphasis on their underlying pharmacology and efficacy. In addition, we review current guidelines for the initiation, maintenance, and discontinuation of anti-VEGF therapies, as well as emerging treatment strategies and future directions in the field.

scholarly journals Targeted Gene Candidates for Treatment and Early Diagnosis of Age-Related Macular Degeneration

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Emine Cinici ◽  
Ozge Caglar ◽  
Mehmet Enes Arslan ◽  
Nilay Dilekmen ◽  
Bahadır Utlu ◽  
...  
Keyword(s):  
Gene Expression ◽  
Early Diagnosis ◽  
Macular Degeneration ◽  
Expression Analysis ◽  
Peripheral Blood ◽  
Gene Expression Analysis ◽  
Mononuclear Cells ◽  
Age Related Macular Degeneration ◽  
Pcr Analysis ◽  
Age Related

Age-related macular degeneration (AMD) is an eye disease that impairs the sharp and central vision need for daily activities. Recent advances in molecular biology research not only lead to a better understanding of the genetics and pathophysiology of AMD but also to the development of applications based on targeted gene expressions to treat the disease. Clarification of molecular pathways that causing to development and progression in dry and wet types of AMD needs comprehensive and comparative investigations in particular precious biopsies involving peripheral blood samples from the patients. Therefore, in this investigation, dry and wet types of AMD patients and healthy individuals were aimed at investigating in regard to targeted gene candidates by using gene expression analysis for the first time. 13 most potent candidate genes involved in neurodegeneration were selected via in silico approach and investigated through gene expression analysis to suggest new targets for disease therapy. For the analyses, 30 individuals (10 dry and 10 wet types AMD patients and 10 healthy people) were involved in the study. SYBR-Green based Real-Time PCR analysis was performed on isolated peripheral blood mononuclear cells (PBMCs) to analyze differentially expressed genes related to these cases. According to the investigations, only the CRP gene was found to be upregulated for both dry and wet disease types. When the downregulated genes were analyzed, it was found that 11 genes were commonly decreased for both dry and wet types in the aspect of expression pattern. From these genes, CFH, CX3CR1, FLT1, and TIMP3 were found to have the most downregulated gene expression properties for both diseases. From these results, it might be concluded that these common upregulated and downregulated genes could be used as targets for early diagnosis and treatment for AMD.

scholarly journals THE HOMING TRIAL: A RETROSPECTIVE PILOT STUDY ON THE EFFICACY OF PERSONALIZED BIOIDENTICAL HORMONE, DIETARY SUPPLEMENT AND NUTRITION CARE PLANS FOR AGE-RELATED MACULAR DEGENERATION (AMD)

2021 ◽  
Vol 5 (4) ◽  
Author(s):  
George W. Rozakis ◽  
Brian A. Bakke
Keyword(s):  
Oxidative Stress ◽  
Gene Expression ◽  
Visual Acuity ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Care Plans ◽  
Age Related ◽  
Dry Amd ◽  
Wet Amd

The objective of the Hormones, Oxidative stress, Methylation, Inflammation and Gene expression (HOMING) trial was to assess the efficacy of personalized bio identical hormone, dietary supplement and nutritional care plans on dry and wet Age-related Macular Degeneration (AMD) outcomes.  We evaluated 220 Age-related Macular Degeneration (AMD) patients that followed a personalized clinical care plan for up to 9 months.   The care plans consisted of bio identical hormones, dietary supplements and nutrition recommendations with the objective to improve lab and clinical measurements linked to oxidative stress, inflammation and gene expression.  Serum concentrations of CRP, HbA1c and homocysteine responded favorably to the HOMING protocol with full program compliance. Sixty percent (42/70) of wet AMD patients reported improvement in visual acuity and/or a reduction in the frequency of anti-VEGF injections during the study period.  Forty eight percent (44/92) of dry AMD patients reported improvement in visual acuity during the study period.  Nine percent (4/45) patients reported improvement in visual acuity in the dry AMD control group and no (0/13) wet AMD patients in the control group reported improvement.  Six percent (4/70) of wet AMD patients reported that their vision declined and/or that their F frequency increased during the study period.  Five percent (4/92) of dry AMD patients reported that their vision was worse.  Keywords:  Bio identical Hormones, Oxidative stress, Methylation, Inflammation, Gene Expression, Nutrition and AMD.

scholarly journals Epistatic interactions of genetic loci associated with age-related macular degeneration

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Christina Kiel ◽  
Christoph A. Nebauer ◽  
Tobias Strunz ◽  
Simon Stelzl ◽  
Bernhard H. F. Weber
Keyword(s):  
Gene Expression ◽  
Macular Degeneration ◽  
Genetic Variants ◽  
Genome Wide Association Study ◽  
Age Related Macular Degeneration ◽  
Risk Scores ◽  
Cellular Processes ◽  
Age Related ◽  
Genome Wide ◽  
Extracellular Structures

AbstractThe currently largest genome-wide association study (GWAS) for age-related macular degeneration (AMD) defines disease association with genome-wide significance for 52 independent common and rare genetic variants across 34 chromosomal loci. Overall, these loci contain over 7200 variants and are enriched for genes with functions indicating several shared cellular processes. Still, the precise mechanisms leading to AMD pathology are largely unknown. Here, we exploit the phenomenon of epistatic interaction to identify seemingly independent AMD-associated variants that reveal joint effects on gene expression. We focus on genetic variants associated with lipid metabolism, organization of extracellular structures, and innate immunity, specifically the complement cascade. Multiple combinations of independent variants were used to generate genetic risk scores allowing gene expression in liver to be compared between low and high-risk AMD. We identified genetic variant combinations correlating significantly with expression of 26 genes, of which 19 have not been associated with AMD before. This study defines novel targets and allows prioritizing further functional work into AMD pathobiology.

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