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https://www.readbyqxmd.com/read/27922631/dataset-of-eye-disease-related-proteins-analyzed-using-the-unfolding-mutation-screen
#1
Caitlyn L McCafferty, Yuri V Sergeev
A number of genetic diseases are a result of missense mutations in protein structure. These mutations can lead to severe protein destabilization and misfolding. The unfolding mutation screen (UMS) is a computational method that calculates unfolding propensities for every possible missense mutation in a protein structure. The UMS validation demonstrated a good agreement with experimental and phenotypical data. 15 protein structures (a combination of homology models and crystal structures) were analyzed using UMS...
December 6, 2016: Scientific Data
https://www.readbyqxmd.com/read/27917946/basigin-can-be-a-therapeutic-target-to-restore-the-retinal-vascular-barrier-function-in-the-mouse-model-of-diabetic-retinopathy
#2
Mitsuru Arima, Dan Cui, Tokuhiro Kimura, Koh-Hei Sonoda, Tatsuro Ishibashi, Satoshi Matsuda, Eiji Ikeda
Despite the advance in medical technology, diabetic retinopathy (DR) is still an intractable disease which leads to the damage of retinal cells and finally the visual loss. Impairment of retinal vascular barrier triggered by an admixture of multiple inflammatory cytokines is a core of pathophysiology of DR. Therefore, the molecules involved commonly in multiple cytokines-induced impairment of vascular barrier would be the targets of curative treatment of DR. Here, we demonstrate that basigin, a transmembrane molecule expressed in neural barrier-forming endothelial cells, is the molecule essential for vascular barrier impairment which is shared by various triggers including VEGF, TNFα and IL-1β...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27917399/retinoids-and-retinal-diseases
#3
Philip D Kiser, Krzysztof Palczewski
Recent progress in molecular understanding of the retinoid cycle in mammalian retina stems from painstaking biochemical reconstitution studies supported by natural or engineered animal models with known genetic lesions and studies of humans with specific genetic blinding diseases. Structural and membrane biology have been used to detect critical retinal enzymes and proteins and their substrates and ligands, placing them in a cellular context. These studies have been supplemented by analytical chemistry methods that have identified small molecules by their spectral characteristics, often in conjunction with the evaluation of models of animal retinal disease...
October 2016: Annual Review of Vision Science
https://www.readbyqxmd.com/read/27916682/adaptive-optics-optical-coherence-tomography-in-glaucoma
#4
REVIEW
Zachary M Dong, Gadi Wollstein, Bo Wang, Joel S Schuman
Since the introduction of commercial optical coherence tomography (OCT) systems, the ophthalmic imaging modality has rapidly expanded and it has since changed the paradigm of visualization of the retina and revolutionized the management and diagnosis of neuro-retinal diseases, including glaucoma. OCT remains a dynamic and evolving imaging modality, growing from time-domain OCT to the improved spectral-domain OCT, adapting novel image analysis and processing methods, and onto the newer swept-source OCT and the implementation of adaptive optics (AO) into OCT...
December 1, 2016: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/27915325/possible-role-of-sildenafil-citrate-in-the-recurrence-of-neovascularization-in-laser-regressed-aggressive-posterior-rop
#5
Chaitra Jayadev, Phanibhushan Ramasastry, Alia Gul, Anand Vinekar
BACKGROUND: Systemic diseases and their treatment influence aggressive posterior retinopathy of prematurity. CASE CHARACTERISTICS: A premature infant with aggressive posterior retinopathy of prematurity underwent laser treatment with a favourable outcome. She was started on oral sidenafil citrate for pulmonary hypertension. Ten days later she developed neovascularization within the lasered retina. INTERVENTION/OUTCOME: Considering the possible role of sildenafil in this unusual development, the drug was withdrawn resulting in regression of the neovascularization...
November 7, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27914762/distribution-of-the-neuro-regulatory-peptide-galanin-in-the-human-eye
#6
Alexandra Kaser-Eichberger, Andrea Trost, Clemens Strohmaier, Barbara Bogner, Christian Runge, Daniela Bruckner, Bettina Hohberger, Anselm Jünemann, Barbara Kofler, Herbert A Reitsamer, Falk Schrödl
Galanin (GAL) is a neuro-regulatory peptide involved in many physiological and pathophysiological processes. While data of GAL origin/distribution in the human eye are rather fragmentary and since recently the presence of GAL-receptors in the normal human eye has been reported, we here systematically search for sources of ocular GAL in the human eye. Human eyes (n=14) were prepared for single- and double-immunohistochemistry of GAL and neurofilaments (NF). Cross- and flat-mount sections were achieved; confocal laser-scanning microscopy was used for documentation...
November 25, 2016: Neuropeptides
https://www.readbyqxmd.com/read/27911838/antagonists-of-growth-hormone-releasing-hormone-receptor-induce-apoptosis-specifically-in-retinoblastoma-cells
#7
Wai Kit Chu, Ka Sin Law, Sun On Chan, Jason Cheuk Sing Yam, Li Jia Chen, Hao Zhang, Herman S Cheung, Norman L Block, Andrew V Schally, Chi Pui Pang
Retinoblastoma (RB) is the most common intraocular cancer in children worldwide. Current treatments mainly involve combinations of chemotherapies, cryotherapies, and laser-based therapies. Severe or late-stage disease may require enucleation or lead to fatality. Recently, RB has been shown to arise from cone precursor cells, which have high MDM2 levels to suppress p53-mediated apoptosis. This finding leads to the hypothesis that restoring apoptosis mechanisms in RBs could specifically kill the cancer cells without affecting other retinal cells...
November 23, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911769/reductive-carboxylation-is-a-major-metabolic-pathway-in-the-retinal-pigment-epithelium
#8
Jianhai Du, Aya Yanagida, Kaitlen Knight, Abbi L Engel, Anh Huan Vo, Connor Jankowski, Martin Sadilek, Van Thi Bao Tran, Megan A Manson, Aravind Ramakrishnan, James B Hurley, Jennifer R Chao
The retinal pigment epithelium (RPE) is a monolayer of pigmented cells that requires an active metabolism to maintain outer retinal homeostasis and compensate for oxidative stress. Using (13)C metabolic flux analysis in human RPE cells, we found that RPE has an exceptionally high capacity for reductive carboxylation, a metabolic pathway that has recently garnered significant interest because of its role in cancer cell survival. The capacity for reductive carboxylation in RPE exceeds that of all other cells tested, including retina, neural tissue, glial cells, and a cancer cell line...
December 1, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911706/using-induced-pluripotent-stem-cells-to-understand-retinal-ciliopathy-disease-mechanisms-and-develop-therapies
#9
REVIEW
David A Parfitt, Amelia Lane, Conor Ramsden, Katarina Jovanovic, Peter J Coffey, Alison J Hardcastle, Michael E Cheetham
The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration. The ability to reprogramme human cells into induced pluripotent stem cells and then differentiate them into a wide range of different cell types has revolutionised our ability to study human disease. To date, however, the challenge of producing fully differentiated photoreceptors in vitro has limited the application of this technology in studying retinal degeneration...
October 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27911427/-modern-approach-to-early-diagnosis-and-pathogenetic-treatment-of-diabetic-retinopathy
#10
I V Vorob'eva
AIM: To improve the approach to pathogenetic treatment of diabetic retinopathy (DR) through early diagnosis and a new method for predicting disease progression. MATERIAL AND METHODS: The study enrolled 330 type 2 diabetes patients with DR (660 eyes), of whom women constituted 64.6%, men - 35.4%. The mean patient age was 62.3±2.3 years. Three groups were formed: the controls - 30 healthy volunteers (60 eyes) and 30 type 2 diabetes patients without ocular involvement (DR 0, 60 eyes); group 1 - 30 type 2 diabetes patients with DR I but no diabetic macular edema (DR I without DME, 60 eyes) that were treated with calcium dobesilate; group 2 - 240 type 2 diabetes patients, who had diabetic retinopathy of different stages (DR I, II, or III with DME, 480 eyes) and received laser retinal photocoagulation (LRP)...
2016: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/27911422/-diagnostic-potential-of-optical-coherence-tomography-for-small-choroidal-melanomas
#11
A F Brovkina, A S Stoyukhina, I V Musatkina
AIM: To investigate the sequence of OCT manifestations in choroidal melanoma (CM) with account to its growth. MATERIAL AND METHODS: A total of 28 CM patients were examined. Of them, 18 patients with early CM, 10 - with medium-sized CM. The mean patient age at diagnosis was 60.54±5.31 years. Tumor location was macular (15 eyes) or perimacular (13 eyes), its prominence varied from 0.98 to 4.9 mm and basal diameter - from 5.08 to 18.9 mm. Additionally to OCT, tumor autofluorescence was studied in all cases...
2016: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/27909796/-clinical-morphological-and-molecular-biological-characteristics-of-the-aging-eye
#12
M R R Böhm, H Thomasen, F Parnitzke, K-P Steuhl
BACKGROUND: The physiological aging of the eye is associated with loss of visual function. Age-related changes of the eye can result in ophthalmological diseases. The aim of this article is to display morphological, histological and molecular biological alterations of the aging eye. MATERIAL AND METHODS: A web-based search and review of the literature for aging of the visual system including cornea, lens, vitreous humor, retina, retinal pigment epithelium (RPE), choroidea and optic nerve were carried out...
December 1, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27908408/protective-effect-of-magnesium-acetyltaurate-against-nmda-induced-retinal-damage-involves-restoration-of-minerals-and-trace-elements-homeostasis
#13
Azliana Jusnida Ahmad Jafri, Natasha Najwa Nor Arfuzir, Lidawani Lambuk, Igor Iezhitsa, Renu Agarwal, Puneet Agarwal, Norhafiza Razali, Anna Krasilnikova, Maria Kharitonova, Vasily Demidov, Evgeny Serebryansky, Anatoly Skalny, Alexander Spasov, Ahmad Pauzi Md Yusof, Nafeeza Mohd Ismail
Glutamate-mediated excitotoxicity involving N-methyl-d-aspartate (NMDA) receptors has been recognized as a final common outcome in pathological conditions involving death of retinal ganglion cells (RGCs). Overstimulation of NMDA receptors results in influx of calcium (Ca) and sodium (Na) ions and efflux of potassium (K). NMDA receptors are blocked by magnesium (Mg). Such changes due to NMDA overstimulation are also associated with not only the altered levels of minerals but also that of trace elements and redox status...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27902540/macular-perivenous-retinal-whitening-and-presumed-retino-ciliary-sparing-in-a-recurrent-central-retinal-vein-occlusion-associated-with-the-antiphospholipid-syndrome-and-cryoglobulinemia
#14
Dov B Sebrow, Jesse J Jung, Jason Horowitz, Jeffrey G Odel, K Bailey Freund
PURPOSE: Macular perivenous retinal whitening results from hypoperfusion-induced ischemia of the middle retina that can occur in central retinal vein occlusion (CRVO). We describe an unusual case of recurrent CRVO with macular perivenous retinal whitening and retino-ciliary venous sparing in the setting of 2 prothrombotic diseases, antiphospholipid syndrome and Type II cryoglobulinemia. METHODS: A 50-year-old man presented with intermittent loss of vision in his right eye related to a recurrent CRVO...
November 29, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27895995/photoreceptor-disc-shedding-in-the-living-human-eye
#15
Omer P Kocaoglu, Zhuolin Liu, Furu Zhang, Kazuhiro Kurokawa, Ravi S Jonnal, Donald T Miller
Cone photoreceptors undergo a daily cycle of renewal and shedding of membranous discs in their outer segments (OS), the portion responsible for light capture. These physiological processes are fundamental to maintaining photoreceptor health, and their dysfunction is associated with numerous retinal diseases. While both processes have been extensively studied in animal models and postmortem eyes, little is known about them in the living eye, in particular human. In this study, we report discovery of the optical signature associated with disc shedding using a method based on adaptive optics optical coherence tomography (AO-OCT) in conjunction with post-processing methods to track and monitor individual cone cells in 4D...
November 1, 2016: Biomedical Optics Express
https://www.readbyqxmd.com/read/27894090/gremlin-promotes-retinal-pigmentation-epithelial-rpe-cell-proliferation-migration-and-vegf-production-via-activating-vegfr2-akt-mtorc2-signaling
#16
Yuan Liu, Zhijun Chen, Haixia Cheng, Juan Chen, Jing Qian
Retinopathy of prematurity (ROP) is characterized by late-phase pathologic retinal vasoproliferation. Gremlin is a novel vascular endothelial growth factors (VEGF) receptor 2 (VEGFR2) agonist and promotes angiogenic response. We demonstrated that gremlin expression was significantly increased in retinas of ROP model mice, which was correlated with VEGF upregulation. In retinal pigmentation epithelial (RPE) cells, gremlin activated VEGFR2-Akt-mTORC2 (mammalian target of rapamycin complex 2) signaling, and promoted cell proliferation, migration and VEGF production...
November 23, 2016: Oncotarget
https://www.readbyqxmd.com/read/27893849/features-of-age-related-macular-degeneration-in-the-general-adults-and-their-dependency-on-age-sex-and-smoking-results-from-the-german-kora-study
#17
Caroline Brandl, Valentin Breinlich, Klaus J Stark, Sabrina Enzinger, Matthias Aßenmacher, Matthias Olden, Felix Grassmann, Jochen Graw, Margit Heier, Annette Peters, Horst Helbig, Helmut Küchenhoff, Bernhard H F Weber, Iris M Heid
Age-related macular degeneration (AMD) is a vision impairing disease of the central retina characterized by early and late forms in individuals older than 50 years of age. However, there is little knowledge to what extent also younger adults are affected. We have thus set out to estimate the prevalence of early AMD features and late AMD in a general adult population by acquiring color fundus images in 2,840 individuals aged 25 to 74 years of the Cooperative Health Research in the Region of Augsburg project (KORA) in South Germany...
2016: PloS One
https://www.readbyqxmd.com/read/27893103/potential-of-small-molecule-mediated-reprogramming-of-rod-photoreceptors-to-treat-retinitis-pigmentosa
#18
Paul A Nakamura, Shibing Tang, Andy A Shimchuk, Sheng Ding, Thomas A Reh
Purpose: Mutations in rod photoreceptor genes can cause retinitis pigmentosa (RP). Rod gene expression is regulated by the nuclear hormone receptor, Nr2e3. Genetic deletion of Nr2e3 reprograms rods into cells that resemble cone photoreceptors, and might therefore prevent their death from some forms of RP. There are no identified ligands for Nr2e3; however, reverse agonists might mimic the genetic rescue effect and may be therapeutically useful for the treatment of RP. Methods: We screened for small molecule modulators of Nr2e3 using primary retinal cell cultures and characterized the most potent, which we have named photoregulin1 (PR1), in vitro and in vivo...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27892714/-2r-3s-pinobanksin-3-cinnamate-ameliorates-photoreceptor-degeneration-in-pde6-rd10-mice
#19
Yin Li, Tuo Li, Yi-Qiao Xing, Jia-Zhang Li, Qing-Song Wu
As an inherited disorder caused by initial death of rod photoreceptors, retinitis pigmentosa is currently untreatable and usually leads to partial or complete blindness. (2R, 3S)-pinobanksin-3-cinnamate (PC) is a new flavonone isolated from the seed of Alpinia galanga Willd, and has been reported to exert neuroprotective effects by upregulating endogenous antioxidant enzymes. In this study, the anti-oxidative and neuroprotective activity of PC against photoreceptor apoptosis in rd10 mouse model of retinitis pigmentosa was explored...
November 28, 2016: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/27891091/amyloid-plaques-in-retina-for-diagnosis-in-alzheimer-s-patients-a-meta-analysis
#20
Jiangling Jiang, Hongyan Wang, Wei Li, Xinyi Cao, Chunbo Li
Background: Detection of retinal β-amyloid (Aβ) peptide accumulation is a novel diagnostic method for Alzheimer's disease (AD), but there is, as yet, no conclusive evidence of its accuracy. Aim: To identify the diagnostic accuracy of pathological retinal Aβ detection for AD by a meta-analytic approach. Methods: Electronic and reference searches were conducted to identify studies related to the diagnostic effects of retinal Aβ detection in AD that met pre-defined inclusion criteria. The QUADAS-2 tool was employed to assess the risk of bias, and Review Manager plus the Open Meta-Analyst were used to perform the data analysis...
2016: Frontiers in Aging Neuroscience
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