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The Molecular and Cellular Basis of Eye Diseases: Cataract, PCO and ERM Formation

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 (31 August 2023) | Viewed by 11136

Special Issue Editor

Dr. Sofija Andjelic

E-Mail Website
Guest Editor
Eye Hospital, University Medical Centre, 1000 Ljubljana, Slovenia
Interests: cataract; translational research; ocular diseases; electrophysiology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The innovative integration of multiple complementary state-of-the-art approaches is necessary to address the molecular and cellular basis of eye diseases, here with an emphasis on cataract, posterior capsule opacification (PCO), as well as epiretinal membrane (ERM) formation, in order to improve our understanding of them and discover potential new therapeutic methods to treat or prevent them. This is important as they are a significant cause of blindness in the world. The topics of interest are the functional and structural studies on animal models, human tissue, and cell cultures, as well as cell signaling, intercellular communication, calcium homeostasis, and macromolecular cell component studies, but the topics are not limited to that. Translational research that combines basic research with clinical reality is welcomed. Pure clinical studies will not be suitable for this Special Issue. For this Special Issue, original studies and reviews are welcomed.

Dr. Sofija Andjelic
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

  • cataract
  • lens epithelial cells
  • calcium imaging
  • cellular communication
  • cell signalling
  • gap junctions
  • FTIR
  • scanning electron microscopy

Published Papers (6 papers)

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Research

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22 pages, 2837 KiB  
Article
Binding of βL-Crystallin with Models of Animal and Human Eye Lens-Lipid Membrane
by Preston Hazen, Geraline Trossi-Torres, Nawal K. Khadka, Raju Timsina and Laxman Mainali
Int. J. Mol. Sci. 2023, 24(17), 13600; https://doi.org/10.3390/ijms241713600 - 2 Sep 2023
Cited by 2 | Viewed by 812
Abstract
Several discoveries show that with age and cataract formation, β-crystallin binds with the lens membrane or associates with other lens proteins, which bind with the fiber cell plasma membrane, accompanied by light scattering and cataract formation. However, how lipids (phospholipids and sphingolipids) and [...] Read more.
Several discoveries show that with age and cataract formation, β-crystallin binds with the lens membrane or associates with other lens proteins, which bind with the fiber cell plasma membrane, accompanied by light scattering and cataract formation. However, how lipids (phospholipids and sphingolipids) and cholesterol (Chol) influence β-crystallin binding to the membrane is unclear. This research aims to elucidate the role of lipids and Chol in the binding of β-crystallin to the membrane and the membrane’s physical properties (mobility, order, and hydrophobicity) with β-crystallin binding. We used electron paramagnetic resonance (EPR) spin-labeling methods to investigate the binding of βL-crystallin with a model of porcine lens-lipid (MPLL), model of mouse lens-lipid (MMLL), and model of human lens-lipid (MHLL) membrane with and without Chol. Our results show that βL-crystallin binds with all of the investigated membranes in a saturation manner, and the maximum parentage of the membrane surface occupied (MMSO) by βL-crystallin and the binding affinity (Ka) of βL-crystallin to the membranes followed trends: MMSO (MPLL) > MMSO (MMLL) > MMSO (MHLL) and Ka (MHLL) > Ka (MMLL) ≈ Ka (MPLL), respectively, in which the presence of Chol reduces the MMSO and Ka for all membranes. The mobility near the headgroup regions of the membranes decreases with an increase in the binding of βL-crystallin; however, the decrease is more pronounced in the MPLL and MMLL membranes than the MHLL membrane. In the MPLL and MMLL membranes, the membranes become slightly ordered near the headgroup with an increase in βL-crystallin binding compared to the MHLL membrane. The hydrophobicity near the headgroup region of the membrane increases with βL-crystallin binding; however, the increase is more pronounced in the MPLL and MMLL membranes than the MHLL membrane, indicating that βL-crystallin binding creates a hydrophobic barrier for the passage of polar molecules, which supports the barrier hypothesis in cataract formation. However, in the presence of Chol, there is no significant increase in hydrophobicity with βL-crystallin binding, suggesting that Chol prevents the formation of a hydrophobic barrier, possibly protecting against cataract formation. Full article
(This article belongs to the Special Issue The Molecular and Cellular Basis of Eye Diseases: Cataract, PCO and ERM Formation)
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27 pages, 2964 KiB  
Article
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
by Patricia Rodríguez-Solana, Natalia Arruti, María Nieves-Moreno, Rocío Mena, Carmen Rodríguez-Jiménez, Marta Guerrero-Carretero, Juan Carlos Acal, Joana Blasco, Jesús M. Peralta, Ángela Del Pozo, Victoria E. F. Montaño, Lucía De Dios-Blázquez, Celia Fernández-Alcalde, Carmen González-Atienza, Eloísa Sánchez-Cazorla, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Susana Noval and Elena Vallespín
Int. J. Mol. Sci. 2023, 24(14), 11429; https://doi.org/10.3390/ijms241411429 - 13 Jul 2023
Viewed by 1238
Abstract
Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in childhood, the main objective of [...] Read more.
Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in childhood, the main objective of this study was to propose new responsible gene candidates that would allow a more targeted genetic approach and expand our genetic knowledge about the disease. We present a whole exome sequencing (WES) study of 20 Spanish families with non-syndromic pediatric cataracts and a previous negative result on an ophthalmology next-generation sequencing panel. After ophthalmological evaluation and collection of peripheral blood samples from these families, WES was performed. We were able to reach a genetic diagnosis in 10% of the families analyzed and found genes that could cause pediatric cataracts in 35% of the cohort. Of the variants found, 18.2% were classified as pathogenic, 9% as likely pathogenic, and 72.8% as variants of uncertain significance. However, we did not find conclusive results in 55% of the families studied, which suggests further studies are needed. The results of this WES study allow us to propose LONP1, ACACA, TRPM1, CLIC5, HSPE1, ODF1, PIKFYVE, and CHMP4A as potential candidates to further investigate for their role in pediatric cataracts, and AQP5 and locus 2q37 as causal genes. Full article
(This article belongs to the Special Issue The Molecular and Cellular Basis of Eye Diseases: Cataract, PCO and ERM Formation)
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13 pages, 2500 KiB  
Article
Nitro Dihydrocapsaicin, a Non-Pungent Capsaicin Analogue, Inhibits Cellular Senescence of Lens Epithelial Cells via Upregulation of SIRT1
by Pussadee Paensuwan, Thanet Laorob, Jatuporn Ngoenkam, Uthai Wichai and Sutatip Pongcharoen
Int. J. Mol. Sci. 2022, 23(22), 13960; https://doi.org/10.3390/ijms232213960 - 12 Nov 2022
Viewed by 2056
Abstract
Diabetic cataracts are a common complication that can cause blindness among patients with diabetes mellitus. A novel nitro dihydrocapsaicin (NDHC), a capsaicin analog, was constructed to have a non-pungency effect. The objective of this research was to study the effect of NDHC on [...] Read more.
Diabetic cataracts are a common complication that can cause blindness among patients with diabetes mellitus. A novel nitro dihydrocapsaicin (NDHC), a capsaicin analog, was constructed to have a non-pungency effect. The objective of this research was to study the effect of NDHC on human lens epithelial (HLE) cells that lost function from hyperglycemia. HLE cells were pretreated with NDHC before an exposure to high glucose (HG) conditions. The results show that NDHC promoted a deacceleration of cellular senescence in HLE cells. This inhibition of cellular senescence was characterized by a delayed cell growth and lower production of reactive oxygen species (ROS) as well as decreased SA-β-galactosidase activity. Additionally, the expression of Sirt1 protein sharply increased, while the expression of p21 and phospho-p38 proteins decreased. These findings provide evidence that NDHC could exert a pharmacologically protective effect by inhibiting the senescence program of lens cells during diabetic cataracts. Full article
(This article belongs to the Special Issue The Molecular and Cellular Basis of Eye Diseases: Cataract, PCO and ERM Formation)
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14 pages, 2749 KiB  
Article
Soemmerring’s Rings Developed around IOLs, in Human Donor Eyes, Can Present Internal Transparent Areas
by Justin Christopher D’Antin, Francesc Tresserra, Rafael I. Barraquer and Ralph Michael
Int. J. Mol. Sci. 2022, 23(21), 13294; https://doi.org/10.3390/ijms232113294 - 31 Oct 2022
Cited by 2 | Viewed by 1331
Abstract
Soemmerring’s rings consist of a ring of lens epithelial derived cells that grow along the periphery of an aphakic lens capsule, or around an intraocular lens. These rings when visualized frontally, appear opaque, however, in some cases the cells that compose these rings [...] Read more.
Soemmerring’s rings consist of a ring of lens epithelial derived cells that grow along the periphery of an aphakic lens capsule, or around an intraocular lens. These rings when visualized frontally, appear opaque, however, in some cases the cells that compose these rings are organized in the same fashion as those in normal transparent adult lenses. Thus, our purpose was to test whether any part of the adult Soemmerring’s ring could be transparent and how this related to morphological factors. To study this, 16 Soemmerring’s rings were extracted from donor eye globes. After imaging, they were thickly sectioned sagittally in order to analyze the degrees of transparency of different areas. All samples were also histologically analyzed using alpha smooth muscle actin, Vimentin, wheat germ agglutinin and DAPI. Our results showed that many samples had some transparent areas, mostly towards the center of their cross-section. Of the factors that we analyzed, only lens fiber organization at the bow region and an increased area of mature lens fiber cells had a significant relation to the degree of transparency at the center. Thus, we can conclude that as Soemmerring’s rings mature, they can develop organized and transparent areas of lens cells. Full article
(This article belongs to the Special Issue The Molecular and Cellular Basis of Eye Diseases: Cataract, PCO and ERM Formation)
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Review

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14 pages, 930 KiB  
Review
Current Approach to the Pathogenesis of Diabetic Cataracts
by Małgorzata Mrugacz, Magdalena Pony-Uram, Anna Bryl and Katarzyna Zorena
Int. J. Mol. Sci. 2023, 24(7), 6317; https://doi.org/10.3390/ijms24076317 - 28 Mar 2023
Cited by 9 | Viewed by 4159
Abstract
Cataracts remain the first or second leading cause of blindness in all world regions. In the diabetic population, cataracts not only have a 3–5 times higher incidence than in the healthy population but also affect people at a younger age. In patients with [...] Read more.
Cataracts remain the first or second leading cause of blindness in all world regions. In the diabetic population, cataracts not only have a 3–5 times higher incidence than in the healthy population but also affect people at a younger age. In patients with type 1 diabetes, cataracts occur on average 20 years earlier than in the non-diabetic population. In addition, the risk of developing cataracts increases with the duration of diabetes and poor metabolic control. A better understanding of the mechanisms leading to the formation of diabetic cataracts enables more effective treatment and a holistic approach to the patient. Full article
(This article belongs to the Special Issue The Molecular and Cellular Basis of Eye Diseases: Cataract, PCO and ERM Formation)
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Other

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11 pages, 1470 KiB  
Case Report
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract
by Flora Delas, Samuel Koller, Silke Feil, Ivanka Dacheva, Christina Gerth-Kahlert and Wolfgang Berger
Int. J. Mol. Sci. 2023, 24(23), 16594; https://doi.org/10.3390/ijms242316594 - 22 Nov 2023
Viewed by 703
Abstract
Congenital cataract (CC), the most prevalent cause of childhood blindness and amblyopia, necessitates prompt and precise genetic diagnosis. The objective of this study is to identify the underlying genetic cause in a Swiss patient with isolated CC. Whole exome sequencing (WES) and copy [...] Read more.
Congenital cataract (CC), the most prevalent cause of childhood blindness and amblyopia, necessitates prompt and precise genetic diagnosis. The objective of this study is to identify the underlying genetic cause in a Swiss patient with isolated CC. Whole exome sequencing (WES) and copy number variation (CNV) analysis were conducted for variant identification in a patient born with a total binocular CC without a family history of CC. Sanger Sequencing was used to confirm the variant and segregation analysis was used to screen the non-affected parents. The first de novo missense mutation at c.391T>C was identified in exon 3 of CRYGC on chromosome 2 causing the substitution of a highly conserved Tryptophan to an Arginine located at p.Trp131Arg. Previous studies exhibit significant changes in the tertiary structure of the crystallin family in the following variant locus, making CRYGC prone to aggregation aggravated by photodamage resulting in cataract. The variant can be classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) criteria (PP3 + PM1 + PM2 + PS2; scoring 10 points). The identification of this novel variant expands the existing knowledge on the range of variants found in the CRYGC gene and contributes to a better comprehension of cataract heterogeneity. Full article
(This article belongs to the Special Issue The Molecular and Cellular Basis of Eye Diseases: Cataract, PCO and ERM Formation)
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