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Cells
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Molecular Mechanisms of Genetic Eye Diseases
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Molecular Mechanisms of Genetic Eye Diseases

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Tissues and Organs".

Deadline for manuscript submissions: closed (15 January 2024) | Viewed by 3886

Special Issue Editor

Dr. Takeshi Iwata

E-Mail Website
Guest Editor
Molecular and Cellular Biology Division, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro-Ku, Tokyo 152-8902, Japan
Interests: molecular mechanisms of retinal diseases including inherited retinal diseases; inherited glaucoma; inherited optic neuropathy; age-related macular degeneration
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Recent advances in DNA sequencing, genome analysis, gene editing, iPS cells, and AI have brought powerful tools and materials to identify disease-causing variants in genetic eye diseases and rapidly perform functional studies, both in vitro and in vivo, to elucidate the molecular mechanisms of disease onset. Most of these technologies were not available to most of us just a decade ago. This trend of technical advancement is likely to continue into the 2020s to help us obtain deeper information of disease cause and onset. Over 300 genes have been identified for inherited eye diseases, and more are expected to be found as genome analysis becomes available in Southeast Asia, the Middle East, Africa, and South America. However, functional studies are essential to confirm that these variants are associated with disease onset and also serve as seed information for therapeutic development. There are many disease-causing genes for inherited eye diseases; therefore, collaborated basic research at a global level is necessary to cover them all. The purpose of this Special Issue is to highlight recent basic and clinical research on inherited eye diseases to identify the disease cause and elucidate the molecular mechanism(s) of disease onset. Inherited eye diseases include inherited eye diseases of the cornea, retina, optic neuron, lens, sclera, and other parts of the eye.

Dr. Takeshi Iwata
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • eye
  • genome
  • chromatin
  • non-coding RNA
  • enhancer
  • gene editing
  • iPS cells
  • animal models
  • single-cell analysis
  • proteomic
  • transcriptomic
  • epigenetics

Published Papers (2 papers)

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Research

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0 pages, 3943 KiB  
Article
Patterns of Gene Expression, Splicing, and Allele-Specific Expression Vary among Macular Tissues and Clinical Stages of Age-Related Macular Degeneration
by Treefa Shwani, Charles Zhang, Leah A. Owen, Akbar Shakoor, Albert T. Vitale, John H. Lillvis, Julie L. Barr, Parker Cromwell, Robert Finley, Nadine Husami, Elizabeth Au, Rylee A. Zavala, Elijah C. Graves, Sarah X. Zhang, Michael H. Farkas, David A. Ammar, Karen M. Allison, Amany Tawfik, Richard M. Sherva, Mingyao Li, Dwight Stambolian, Ivana K. Kim, Lindsay A. Farrer and Margaret M. DeAngelisadd Show full author list remove Hide full author list
Cells 2023, 12(23), 2668; https://doi.org/10.3390/cells12232668 - 21 Nov 2023
Cited by 1 | Viewed by 1686
Abstract
Age-related macular degeneration (AMD) is a leading cause of blindness, and elucidating its underlying disease mechanisms is vital to the development of appropriate therapeutics. We identified differentially expressed genes (DEGs) and differentially spliced genes (DSGs) across the clinical stages of AMD in disease-affected [...] Read more.
Age-related macular degeneration (AMD) is a leading cause of blindness, and elucidating its underlying disease mechanisms is vital to the development of appropriate therapeutics. We identified differentially expressed genes (DEGs) and differentially spliced genes (DSGs) across the clinical stages of AMD in disease-affected tissue, the macular retina pigment epithelium (RPE)/choroid and the macular neural retina within the same eye. We utilized 27 deeply phenotyped donor eyes (recovered within a 6 h postmortem interval time) from Caucasian donors (60–94 years) using a standardized published protocol. Significant findings were then validated in an independent set of well-characterized donor eyes (n = 85). There was limited overlap between DEGs and DSGs, suggesting distinct mechanisms at play in AMD pathophysiology. A greater number of previously reported AMD loci overlapped with DSGs compared to DEGs between disease states, and no DEG overlap with previously reported loci was found in the macular retina between disease states. Additionally, we explored allele-specific expression (ASE) in coding regions of previously reported AMD risk loci, uncovering a significant imbalance in C3 rs2230199 and CFH rs1061170 in the macular RPE/choroid for normal eyes and intermediate AMD (iAMD), and for CFH rs1061147 in the macular RPE/choroid for normal eyes and iAMD, and separately neovascular AMD (NEO). Only significant DEGs/DSGs from the macular RPE/choroid were found to overlap between disease states. STAT1, validated between the iAMD vs. normal comparison, and AGTPBP1, BBS5, CERKL, FGFBP2, KIFC3, RORα, and ZNF292, validated between the NEO vs. normal comparison, revealed an intricate regulatory network with transcription factors and miRNAs identifying potential upstream and downstream regulators. Findings regarding the complement genes C3 and CFH suggest that coding variants at these loci may influence AMD development via an imbalance of gene expression in a tissue-specific manner. Our study provides crucial insights into the multifaceted genomic underpinnings of AMD (i.e., tissue-specific gene expression changes, potential splice variation, and allelic imbalance), which may open new avenues for AMD diagnostics and therapies specific to iAMD and NEO. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Genetic Eye Diseases)
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Review

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20 pages, 4272 KiB  
Review
Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome
by Vincent Le, Gabrielle Abdelmessih, Wendy A. Dailey, Cecille Pinnock, Victoria Jobczyk, Revati Rashingkar, Kimberly A. Drenser and Kenneth P. Mitton
Cells 2023, 12(21), 2579; https://doi.org/10.3390/cells12212579 - 05 Nov 2023
Viewed by 1761
Abstract
Familial Exudative Vitreoretinopathy (FEVR), Norrie disease, and persistent fetal vascular syndrome (PFVS) are extremely rare retinopathies that are clinically distinct but are unified by abnormal retinal endothelial cell function, and subsequent irregular retinal vascular development and/or aberrant inner blood-retinal-barrier (iBRB) function. The early [...] Read more.
Familial Exudative Vitreoretinopathy (FEVR), Norrie disease, and persistent fetal vascular syndrome (PFVS) are extremely rare retinopathies that are clinically distinct but are unified by abnormal retinal endothelial cell function, and subsequent irregular retinal vascular development and/or aberrant inner blood-retinal-barrier (iBRB) function. The early angiogenesis of the retina and its iBRB is a delicate process that is mediated by the canonical Norrin Wnt-signaling pathway in retinal endothelial cells. Pathogenic variants in genes that play key roles within this pathway, such as NDP, FZD4, TSPAN12, and LRP5, have been associated with the incidence of these retinal diseases. Recent efforts to further elucidate the etiology of these conditions have not only highlighted their multigenic nature but have also resulted in the discovery of pathological variants in additional genes such as CTNNB1, KIF11, and ZNF408, some of which operate outside of the Norrin Wnt-signaling pathway. Recent discoveries of FEVR-linked variants in two other Catenin genes (CTNND1, CTNNA1) and the Endoplasmic Reticulum Membrane Complex Subunit-1 gene (EMC1) suggest that we will continue to find additional genes that impact the neural retinal vasculature, especially in multi-syndromic conditions. The goal of this review is to briefly highlight the current understanding of the roles of their encoded proteins in retinal endothelial cells to understand the essential functional mechanisms that can be altered to cause these very rare pediatric retinal vascular diseases. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Genetic Eye Diseases)
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