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Precision Medicine in Retinal Diseases
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Precision Medicine in Retinal Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 June 2022) | Viewed by 15579

Special Issue Editors

Dr. De-Kuang Hwang

E-Mail Website
Guest Editor
Department of Medical Research, Taipei Veterans General Hospital, Taipei 112201, Taiwan
Interests: ocular inflammation (uveitis); retinal diseases; genes in ocular hereditary and inflammatory diseases; ophthalmic epidemiology; big data analysis; artificial intelligence
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Shih-Jen Chen

E-Mail Website
Guest Editor
Department of Ophthalmology, Taipei Veterans General Hospital, Taipei 112201, Taiwan
Interests: diagnosis and treatments of retinal diseases; molecules and genes in ocular diseases; ophthalmic epidemiology; retinal stem cells; retinal prosthesis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, precision medicine has been widely investigated in many human diseases, including ophthalmology. Recent achievements to predict drug responses, disease prognosis, and stratify patients according to the patients’ genetic makeup are remarkable and slowly implemented into clinical guidelines. Retinal diseases are found to possess a strong component of the genetic preposition, where molecular advances in the understanding of genetic risk, molecular diagnosis, and pathophysiology will influence the patient outcome and derive novel leads for drug development where treatment strategies had been limited to symptom management for many retinal diseases. Furthermore, a greater understanding of the genetic architecture and genetic prevalence will allow active monitoring of patients potentially experiencing progressive blindness and promote effective treatment strategies.

This Special Issue is focused on the genetics of retinal disease and its application into the clinic. Potential topics include but are not limited to the following: precision medicine, genetic statistics, and polygenic risk score for all ocular pathologies (i.e., age-related macular degeneration, cataract, glaucoma, diabetic retinopathy, uveitis, and inherited retinal dystrophy).

Dr. De-Kuang Hwang
Prof. Dr. Shih-Jen Chen
Guest Editors

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

  • precision medicine
  • statistical genetics
  • bioinformatics
  • ocular diseases
  • aged-related macular degeneration
  • cataract
  • diabetic retinopathy

Published Papers (4 papers)

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Research

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21 pages, 4899 KiB  
Article
Inhalative as well as Intravenous Administration of H2S Provides Neuroprotection after Ischemia and Reperfusion Injury in the Rats’ Retina
by Stefanie Scheid, Max Goeller, Wolfgang Baar, Jakob Wollborn, Hartmut Buerkle, Günther Schlunck, Wolf Lagrèze, Ulrich Goebel and Felix Ulbrich
Int. J. Mol. Sci. 2022, 23(10), 5519; https://doi.org/10.3390/ijms23105519 - 15 May 2022
Cited by 8 | Viewed by 1855
Abstract
Background: Neuronal ischemia-reperfusion injury (IRI), such as it can occur in glaucoma or strokes, is associated with neuronal cell death and irreversible loss of function of the affected tissue. Hydrogen sulfide (H2S) is considered a potentially neuroprotective substance, but the most [...] Read more.
Background: Neuronal ischemia-reperfusion injury (IRI), such as it can occur in glaucoma or strokes, is associated with neuronal cell death and irreversible loss of function of the affected tissue. Hydrogen sulfide (H2S) is considered a potentially neuroprotective substance, but the most effective route of application and the underlying mechanism remain to be determined. Methods: Ischemia-reperfusion injury was induced in rats by a temporary increase in intraocular pressure (1 h). H2S was then applied by inhalation (80 ppm at 0, 1.5, and 3 h after reperfusion) or by intravenous administration of the slow-releasing H2S donor GYY 4137. After 24 h, the retinas were harvested for Western blotting, qPCR, and immunohistochemical staining. Retinal ganglion cell survival was evaluated 7 days after ischemia. Results: Both inhalative and intravenously delivered H2S reduced retinal ganglion cell death with a better result from inhalative application. H2S inhalation for 1.5 h, as well as GYY 4137 treatment, increased p38 phosphorylation. Both forms of application enhanced the extracellular signal-regulated kinase 1/2 (ERK1/2) phosphorylation, and inhalation showed a significant increase at all three time points. H2S treatment also reduced apoptotic and inflammatory markers, such as caspase-3, intracellular adhesion molecule 1 (ICAM-1), vascular endothelial growth factor (VEGF), and inducible nitric oxide synthase (iNOS). The protective effect of H2S was partly abolished by the ERK1/2 inhibitor PD98059. Inhalative H2S also reduced the heat shock response including heme oxygenase (HO-1) and heat shock protein 70 (HSP-70) and the expression of radical scavengers such as superoxide dismutases (SOD1, SOD2) and catalase. Conclusion: Hydrogen sulfide acts, at least in part, via the mitogen-activated protein kinase (MAPK) ERK1/2 to reduce apoptosis and inflammation. Both inhalative H2S and intravenous GYY 4137 administrations can improve neuronal cell survival. Full article
(This article belongs to the Special Issue Precision Medicine in Retinal Diseases)
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13 pages, 817 KiB  
Article
Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema
by Rajya L. Gurung, Liesel M. FitzGerald, Ebony Liu, Bennet J. McComish, Georgia Kaidonis, Bronwyn Ridge, Alex W. Hewitt, Brendan J. Vote, Nitin Verma, Jamie E. Craig and Kathryn P. Burdon
Int. J. Mol. Sci. 2022, 23(7), 4042; https://doi.org/10.3390/ijms23074042 - 06 Apr 2022
Cited by 5 | Viewed by 3154
Abstract
Intraocular anti-vascular endothelial growth factor (VEGF) therapies are the front-line treatment for diabetic macular edema (DME); however, treatment response varies widely. This study aimed to identify genetic determinants associated with anti-VEGF treatment response in DME. We performed a genome-wide association study on 220 [...] Read more.
Intraocular anti-vascular endothelial growth factor (VEGF) therapies are the front-line treatment for diabetic macular edema (DME); however, treatment response varies widely. This study aimed to identify genetic determinants associated with anti-VEGF treatment response in DME. We performed a genome-wide association study on 220 Australian patients with DME treated with anti-VEGF therapy, genotyped on the Illumina Global Screening Array, and imputed to the Haplotype Reference Consortium panel. The primary outcome measures were changes in central macular thickness (CMT in microns) and best-corrected visual acuity (BCVA in ETDRS letters) after 12 months. Association between single nucleotide polymorphism (SNP) genotypes and DME outcomes were evaluated by linear regression, adjusting for the first three principal components, age, baseline CMT/BCVA, duration of diabetic retinopathy, and HbA1c. Two loci reached genome-wide significance (p < 5 × 10−8) for association with increased CMT: a single SNP on chromosome 6 near CASC15 (rs78466540, p = 1.16 × 10−9) and a locus on chromosome 12 near RP11-116D17.1 (top SNP rs11614480, p = 2.69 × 10−8). Four loci were significantly associated with reduction in BCVA: two loci on chromosome 11, downstream of NTM (top SNP rs148980760, p = 5.30 × 10−9) and intronic in RP11-744N12.3 (top SNP rs57801753, p = 1.71 × 10−8); one near PGAM1P1 on chromosome 5 (rs187876551, p = 1.52 × 10−8); and one near TBC1D32 on chromosome 6 (rs118074968, p = 4.94 × 10−8). In silico investigations of each locus identified multiple expression quantitative trait loci and potentially relevant candidate genes warranting further analysis. Thus, we identified multiple genetic loci predicting treatment outcomes for anti-VEGF therapies in DME. This work may potentially lead to managing DME using personalized treatment approaches. Full article
(This article belongs to the Special Issue Precision Medicine in Retinal Diseases)
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16 pages, 4416 KiB  
Article
Gata3 Silencing Is Involved in Neuronal Differentiation and Its Abnormal Expression Impedes Neural Activity in Adult Retinal Neurocytes
by Pei Chen, Yihui Wu, Jiejie Zhuang, Xuan Liu, Qian Luo, Qiyun Wang, Zihua Jiang, Anqi He, Shuilian Chen, Xi Chen, Jin Qiu, Yan Li, Ying Yang, Keming Yu and Jing Zhuang
Int. J. Mol. Sci. 2022, 23(5), 2495; https://doi.org/10.3390/ijms23052495 - 24 Feb 2022
Cited by 1 | Viewed by 2196
Abstract
GATA binding protein 3 (Gata3), a zinc-finger transcription factor, plays an important role in neural development. However, its expression and bioactivity in the retina remain unclear. In the present study, our data indicated that Gata3 maintains the precursor state of 661W cells, and [...] Read more.
GATA binding protein 3 (Gata3), a zinc-finger transcription factor, plays an important role in neural development. However, its expression and bioactivity in the retina remain unclear. In the present study, our data indicated that Gata3 maintains the precursor state of 661W cells, and Gata3 silencing induces cell differentiation. The expression of Nestin, a marker of precursor cells, was significantly decreased in parallel, whereas the expression of Map2, a marker of differentiated neurons, was significantly increased following the decrease in Gata3. Neurite outgrowth was increased by 2.78-fold in Gata3-silenced cells. Moreover, Gata3 expression generally paralleled that of Nestin in developing mouse retinas. Both Gata3 and Nestin were expressed in the retina at postnatal day 1 and silenced in the adult mouse retina. Exogenous Gata3 significantly inhibited the neural activity of primary retinal neurocytes (postnatal day 1) by decreasing synaptophysin levels, neurite outgrowth, and cell viability. Furthermore, in vivo, exogenous Gata3 significantly induced apoptosis and the contraction of retinal outlay filaments and decreased the a- and b-waves in adult mouse intravitreal injected with AAV-Re-Gata3-T2A-GFP. Thus, Gata3 silencing promotes neuronal differentiation and neurite outgrowth. Its abnormal expression impedes neural activity in adult retinal neurocytes. This study provides new insights into Gata3 bioactivity in retinal neurocytes. Full article
(This article belongs to the Special Issue Precision Medicine in Retinal Diseases)
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Review

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38 pages, 3607 KiB  
Review
Damage-Associated Molecular Patterns (DAMPs) in Retinal Disorders
by Binapani Mahaling, Shermaine W. Y. Low, Molly Beck, Devesh Kumar, Simrah Ahmed, Thomas B. Connor, Baseer Ahmad and Shyam S. Chaurasia
Int. J. Mol. Sci. 2022, 23(5), 2591; https://doi.org/10.3390/ijms23052591 - 26 Feb 2022
Cited by 15 | Viewed by 7716
Abstract
Damage-associated molecular patterns (DAMPs) are endogenous danger molecules released from the extracellular and intracellular space of damaged tissue or dead cells. Recent evidence indicates that DAMPs are associated with the sterile inflammation caused by aging, increased ocular pressure, high glucose, oxidative stress, ischemia, [...] Read more.
Damage-associated molecular patterns (DAMPs) are endogenous danger molecules released from the extracellular and intracellular space of damaged tissue or dead cells. Recent evidence indicates that DAMPs are associated with the sterile inflammation caused by aging, increased ocular pressure, high glucose, oxidative stress, ischemia, mechanical trauma, stress, or environmental conditions, in retinal diseases. DAMPs activate the innate immune system, suggesting their role to be protective, but may promote pathological inflammation and angiogenesis in response to the chronic insult or injury. DAMPs are recognized by specialized innate immune receptors, such as receptors for advanced glycation end products (RAGE), toll-like receptors (TLRs) and the NOD-like receptor family (NLRs), and purine receptor 7 (P2X7), in systemic diseases. However, studies describing the role of DAMPs in retinal disorders are meager. Here, we extensively reviewed the role of DAMPs in retinal disorders, including endophthalmitis, uveitis, glaucoma, ocular cancer, ischemic retinopathies, diabetic retinopathy, age-related macular degeneration, rhegmatogenous retinal detachment, proliferative vitreoretinopathy, and inherited retinal disorders. Finally, we discussed DAMPs as biomarkers, therapeutic targets, and therapeutic agents for retinal disorders. Full article
(This article belongs to the Special Issue Precision Medicine in Retinal Diseases)
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