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Cell Signaling and Molecular Pathology of Retinal Diseases: 2nd Edition
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Cell Signaling and Molecular Pathology of Retinal Diseases: 2nd Edition

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 April 2025) | Viewed by 4596

Special Issue Editor

Prof. Dr. Hiroshi Tomita

E-Mail Website
Guest Editor
Laboratory of Visual Neuroscience, Graduate Course in Biological Sciences, Division of Science and Engineering, Iwate University, 4-3-5 Ueda, Morioka 020-8551, Iwate, Japan
Interests: photoreceptor degeneration; retinal development; retinal gene therapy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The number of patients with visual impairments and blindness continues to rise year after year. Glaucoma, age-related macular degeneration (AMD), and retinitis pigmentosa (RP) are identified as the top-ranking diseases that lead to blindness. There are a variety of neurons in the retina, and visual impairment occurs when even one type of neuron degenerates. Numerous studies that investigated the mechanisms of retinal degeneration induced by diseases have contributed to the development of new types of therapies such as gene therapies and cell transplantation therapies. Therefore, an understanding of the diverse signaling molecules and signal transduction pathways of retinal degeneration is fundamental for developing therapies. The aim of this Special Issue is to summarize and enlarge the knowledge of mechanisms in retinal degeneration and protection.

Therefore, authors are invited to submit original research and review articles which address the progress and current standing of basic research in retinal degeneration.

Topics include, but are not limited to, the following:

  • New aspects of the mechanisms in retinal degenerative diseases;
  • Techniques for the analysis and identification of retinal diseases;
  • Evaluation of new treatments in animal studies.

Prof. Dr. Hiroshi Tomita
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • retinal degeneration
  • regenerative medicine
  • gene therapy
  • electroretinogram
  • visually evoked potential
  • RNA-seq
  • apoptosis
  • animal model

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Related Special Issue

Published Papers (3 papers)

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20 pages, 1558 KiB  
Review
Fatty Acid-Binding Protein 4-Mediated Regulation Is Pivotally Involved in Retinal Pathophysiology: A Review
by Hiroshi Ohguro, Megumi Watanabe, Fumihito Hikage, Tatsuya Sato, Nami Nishikiori, Araya Umetsu, Megumi Higashide, Toshifumi Ogawa and Masato Furuhashi
Int. J. Mol. Sci. 2024, 25(14), 7717; https://doi.org/10.3390/ijms25147717 - 14 Jul 2024
Cited by 2 | Viewed by 2142
Abstract
Fatty acid-binding proteins (FABPs), a family of lipid chaperone molecules that are involved in intracellular lipid transportation to specific cellular compartments, stimulate lipid-associated responses such as biological signaling, membrane synthesis, transcriptional regulation, and lipid synthesis. Previous studies have shown that FABP4, a member [...] Read more.
Fatty acid-binding proteins (FABPs), a family of lipid chaperone molecules that are involved in intracellular lipid transportation to specific cellular compartments, stimulate lipid-associated responses such as biological signaling, membrane synthesis, transcriptional regulation, and lipid synthesis. Previous studies have shown that FABP4, a member of this family of proteins that are expressed in adipocytes and macrophages, plays pivotal roles in the pathogenesis of various cardiovascular and metabolic diseases, including diabetes mellitus (DM) and hypertension (HT). Since significant increases in the serum levels of FABP4 were detected in those patients, FABP4 has been identified as a crucial biomarker for these systemic diseases. In addition, in the field of ophthalmology, our group found that intraocular levels of FABP4 (ioFABP4) and free fatty acids (ioFFA) were substantially elevated in patients with retinal vascular diseases (RVDs) including proliferative diabetic retinopathy (PDR) and retinal vein occlusion (RVO), for which DM and HT are also recognized as significant risk factors. Recent studies have also revealed that ioFABP4 plays important roles in both retinal physiology and pathogenesis, and the results of these studies have suggested potential molecular targets for retinal diseases that might lead to future new therapeutic strategies. Full article
(This article belongs to the Special Issue Cell Signaling and Molecular Pathology of Retinal Diseases: 2nd Edition)
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20 pages, 3210 KiB  
Article
Inhibiting De Novo Biosynthesis of Ceramide by L-Cycloserine Can Prevent Light-Induced Retinal Degeneration in Albino BALB/c Mice
by Faiza Tahia, Dejian Ma, Daniel J. Stephenson, Sandip K. Basu, Nobel A. Del Mar, Nataliya Lenchik, Harry Kochat, Kennard Brown, Charles E. Chalfant and Nawajes Mandal
Int. J. Mol. Sci. 2024, 25(24), 13389; https://doi.org/10.3390/ijms252413389 - 13 Dec 2024
Viewed by 952
Abstract
Retinal degenerative diseases lead to irreversible vision loss due to photoreceptor cell death, driven by complex genetic and environmental factors. Ceramide, a sphingolipid metabolite, emerges as a critical mediator in the apoptotic cascade associated with retinal degeneration. Our previous work demonstrated L-Cycloserine’s ability [...] Read more.
Retinal degenerative diseases lead to irreversible vision loss due to photoreceptor cell death, driven by complex genetic and environmental factors. Ceramide, a sphingolipid metabolite, emerges as a critical mediator in the apoptotic cascade associated with retinal degeneration. Our previous work demonstrated L-Cycloserine’s ability to protect photoreceptor-derived cells from oxidative stress by inhibiting the de novo ceramide pathway and thus prompting further investigation on its effect in the in vivo retina. This study investigates the potential of L-Cycloserine to protect albino BALB/c mice against light-induced retinal degeneration (LIRD). L-Cycloserine, in an optimal dose, administered systemically 30 min before LIRD, was found to prevent photoreceptor cell death significantly from light-induced degeneration. We further determined the retinal bioavailability and pharmacokinetic behavior of L-Cycloserine, its effect on sphingolipid profile, expression of sphingolipid biosynthetic, and cell death-promoting genes and proteins from the retina to understand the underlying mechanisms. This study lays the groundwork for further preclinical and clinical investigations into L-Cycloserine’s potential as a novel therapeutic in treating retinal degenerative diseases. Full article
(This article belongs to the Special Issue Cell Signaling and Molecular Pathology of Retinal Diseases: 2nd Edition)
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15 pages, 4745 KiB  
Article
Combination of Saffron (Crocus sativus), Elderberry (Sambucus nigra L.) and Melilotus officinalis Protects ARPE-19 Cells from Oxidative Stress
by Alessandra Puddu, Massimo Nicolò and Davide C. Maggi
Int. J. Mol. Sci. 2025, 26(4), 1496; https://doi.org/10.3390/ijms26041496 - 11 Feb 2025
Viewed by 601
Abstract
Oxidative stress is considered a common underlying mechanism in many retinal degenerative diseases and is often associated with inflammation. The use of dietary supplements containing Saffron has beneficial effects in ocular diseases, though the molecular mechanisms are still unclear. In this study, we [...] Read more.
Oxidative stress is considered a common underlying mechanism in many retinal degenerative diseases and is often associated with inflammation. The use of dietary supplements containing Saffron has beneficial effects in ocular diseases, though the molecular mechanisms are still unclear. In this study, we investigated how Saffron can exert protective effects against oxidative damage in retinal pigment epithelial cells (ARPE-19) and whether its combination with Elderberry and Melilotus may have additive beneficial effects. ARPE-19 cells were pretreated with Saffron alone or in a mix containing Saffron, Elderberry and Melilotus, then exposed to hydrogen peroxide (H2O2) for 3 h. Afterwards, we evaluated cell viability, oxidative stress and inflammatory status. Our results showed that H2O2 reduced cell viability and total glutathione levels, while increasing caspase-3, caspase-1 and LDH activity. Moreover, H2O2 triggered ROS production, glutathione oxidation and IL-1β secretion. Pretreatments with Saffron alone or with the mix counteract these damaging effects by improving cell viability, reducing oxidative stress and enhancing SOD2 expression. Pretreatment with the mix activated the NRF2 pathway and was more effective than Saffron alone in preventing caspase-1 activation. These findings suggest that the combination of Saffron, Elderberry and Melilotus could have therapeutic potential in the prevention and treatment of retinal degenerative diseases. Full article
(This article belongs to the Special Issue Cell Signaling and Molecular Pathology of Retinal Diseases: 2nd Edition)
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