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https://www.readbyqxmd.com/read/28428265/inhibition-of-thyroid-hormone-receptor-locally-in-the-retina-is-a-therapeutic-strategy-for-retinal-degeneration
#1
Hongwei Ma, Fan Yang, Michael R Butler, Joshua Belcher, T Michael Redmond, Andrew T Placzek, Thomas S Scanlan, Xi-Qin Ding
Thyroid hormone (TH) signaling regulates cell proliferation, differentiation, and metabolism. Recent studies have implicated TH signaling in cone photoreceptor viability. Using mouse models of retinal degeneration, we demonstrated that antithyroid drug treatment and targeting iodothyronine deiodinases (DIOs) to suppress cellular tri-iodothyronine (T3) production or increase T3 degradation preserves cones. In this work, we investigated the effectiveness of inhibition of the TH receptor (TR). Two genes, THRA and THRB, encode TRs; THRB2 has been associated with cone viability...
April 20, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28418497/course-of-sodium-iodate-induced-retinal-degeneration-in-albino-and-pigmented-mice
#2
Guy Chowers, Matan Cohen, Devora Marks-Ohana, Shelly Stika, Ayala Eijzenberg, Eyal Banin, Alexey Obolensky
Purpose: To characterize the course of sodium iodate (SI)-induced retinal degeneration in young adult albino and pigmented mice. Methods: Single intraperitoneal (IP) injections of SI (25, 50, and 100 mg/kg) were performed in 7- to 8-week-old BALB/c and C57Bl/6J mice. Retinal function and structure was assessed at baseline, 24 hours, 3 days, 1, 2, 3, and 4 weeks postinjection by optokinetic tracking response, ERG, optical coherence tomography (OCT), and histologic and immunohistochemical techniques...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28393863/genetic-and-phenotypic-characteristics-of-four-chinese-families-with-fundus-albipunctatus
#3
Guoxing Yang, Zhiqiang Liu, Shipeng Xie, Chengquan Li, Lina Lv, Minglian Zhang, Jialiang Zhao
Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family...
April 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28393043/leber-s-congenital-amaurosis-and-the-role-of-gene-therapy-in-congenital-retinal-disorders
#4
REVIEW
Walid Sharif, Zuhair Sharif
Leber's congenital amaurosis (LCA) and recent gene therapy advancement for treating inherited retinopathies were extensive literature reviewed using MEDLINE, PubMed and EMBASE. Adeno-associated viral vectors were the most utilised vectors for ocular gene therapy. Cone photoreceptor cells might use an alternate pathway which was not reliant of the retinal pigment epithelium (RPE) derived retinoid isomerohydrolase (RPE65) to access the 11-cis retinal dehydechromophore. Research efforts dedicated on the progression of a gene-based therapy for the treatment of LCA2...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28356702/appropriately-differentiated-arpe-19-cells-regain-phenotype-and-gene-expression-profiles-similar-to-those-of-native-rpe-cells
#5
William Samuel, Cynthia Jaworski, Olga A Postnikova, R Krishnan Kutty, Todd Duncan, Li Xuan Tan, Eugenia Poliakov, Aparna Lakkaraju, T Michael Redmond
PURPOSE: The RPE cell line ARPE-19 provides a dependable and widely used alternative to native RPE. However, replication of the native RPE phenotype becomes more difficult because these cells lose their specialized phenotype after multiple passages. Compounding this problem is the widespread use of ARPE-19 cells in an undifferentiated state to attempt to model RPE functions. We wished to determine whether suitable culture conditions and differentiation could restore the RPE-appropriate expression of genes and proteins to ARPE-19, along with a functional and morphological phenotype resembling native RPE...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28351499/retina-tissue-engineering-by-conjunctiva-mesenchymal-stem-cells-encapsulated-in-fibrin-gel-hypotheses-on-novel-approach-to-retinal-diseases-treatment
#6
Mostafa Soleimannejad, Somayeh Ebrahimi-Barough, Samad Nadri, Mohammad Riazi-Esfahani, Masoud Soleimani, Seyed Mohammad Tavangar, Jafar Ai
BACKGROUND: Retinitis pigmentosa (RP) and age related macular degeneration (AMD) are two retinal diseases that progress by photoreceptor cells death. In retinal transplantation studies, stem and progenitor cells inject into the sub retinal space or vitreous and then these cells can be migrate to the site of retinal degeneration and locate in the host retina and restitute vision. PRESENTATION OF THE HYPOTHESIS: Our hypothesis suggests that using human conjunctiva stem cells (as the source for increasing the number of human stem cells progenitor cells in retina dysfunction diseases) with fibrin gel and also assessing its relating in vitro (cellular and molecular processes) and in vivo (vision tests and pathology) could be a promising strategy for treatment of AMD and RP disorders...
April 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28339981/transcriptome-analysis-of-comb-and-testis-from-rose-comb-silky-chicken-r1-r1-and-beijing-fatty-wild-type-chicken-r-r
#7
Y Wang, J Li, C Feng, Y Zhao, X Hu, N Li
Rose-comb was one of the chicken comb-variants first used by Bateson and Punnet in 1902 to demonstrate Mendelian inheritance in animals. Rose-comb is a monogenic trait that has been widely described in chickens. It is caused by a large structural rearrangement that leads to mis-expression of transcription factor MNR2 on chromosome 7. Rose-comb has pleiotropic effects in homozygous roosters, which is associated with poor sperm mobility. It was postulated that this is caused by the disruption of the CCDC108 gene located at the distal inversion breakpoint...
March 2, 2017: Poultry Science
https://www.readbyqxmd.com/read/28336262/increased-susceptibility-to-fundus-camera-delivered-light-induced-retinal-degeneration-in-mice-deficient-in-oxidative-stress-response-proteins
#8
Yi Ding, Bogale Aredo, Xin Zhong, Cynthia X Zhao, Rafael L Ufret-Vincenty
Oxidative stress is an important contributor to the pathogenesis of many retinal diseases including age-related macular degeneration and retinal dystrophies. Light-induced retinal degeneration (LIRD) can serve as a model in which to study the response of the retina to stress. Of note, many genetic mutant mice are in a C57BL/6 J background and are thus resistant to the usual LIRD models. We recently developed a new model of fundus camera-delivered light-induced retinal degeneration (FCD-LIRD) which is effective in strains of mice expressing the light-resistant variant of RPE65 (450Met), including C57BL/6 J...
March 20, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28300845/digoxin-induced-retinal-degeneration-depends-on-rhodopsin
#9
Britta Landfried, Marijana Samardzija, Maya Barben, Christian Schori, Katrin Klee, Federica Storti, Christian Grimm
Na,K-ATPases are energy consuming ion pumps that are required for maintaining ion homeostasis in most cells. In the retina, Na,K-ATPases are especially important to sustain the dark current in photoreceptor cells needed for rapid hyperpolarization of rods and cones in light. Cardiac glycosides like digoxin inhibit the activity of Na,K-ATPases by targeting their catalytic alpha subunits. This leads to a disturbed ion balance, which can affect cellular function and survival. Here we show that the treatment of wild-type mice with digoxin leads to severe retinal degeneration and loss of vision...
March 16, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28298893/bis-retinoid-a2e-induces-an-increase-of-basic-fibroblast-growth-factor-via-inhibition-of-extracellular-signal-regulated-kinases-1-2-pathway-in-retinal-pigment-epithelium-cells-and-facilitates-phagocytosis
#10
Delphine Balmer, Linda Bapst-Wicht, Aswin Pyakurel, Martine Emery, Natacha Nanchen, Christian G Bochet, Raphael Roduit
Age-related macular degeneration (ARMD) is the leading cause of vision loss in developed countries. Hallmarks of the disease are well known; indeed, this pathology is characterized by lipofuscin accumulation, is principally composed of lipid-containing residues of lysosomal digestion. The N-retinyl-N-retinylidene ethanolamine (A2E) retinoid which is thought to be a cytotoxic component for RPE is the best-characterized component of lipofuscin so far. Even if no direct correlation between A2E spatial distribution and lipofuscin fluorescence has been established in aged human RPE, modified forms or metabolites of A2E could be involved in ARMD pathology...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28286579/brain-xanthophyll-content-and-exploratory-gene-expression-analysis-subspecies-differences-in-rhesus-macaque
#11
Emily S Mohn, John W Erdman, Martha Neuringer, Matthew J Kuchan, Elizabeth J Johnson
BACKGROUND: The dietary xanthophylls, lutein and zeaxanthin, accumulate in primate retina and brain, and emerging evidence indicates neural lutein content may be beneficial for cognition. Neural xanthophyll content in primates varies greatly among individuals, and genetic factors are likely to be significant contributors. Subspecies of rhesus macaques originating from different geographic locations are known to differ genetically, but the effect of origin on gene expression and carotenoid status has not been determined...
2017: Genes & Nutrition
https://www.readbyqxmd.com/read/28282423/age-related-macular-degeneration-phenotypes-are-associated-with-increased-tumor-necrosis-alpha-and-subretinal-immune-cells-in-aged-cxcr5-knockout-mice
#12
Hu Huang, Ying Liu, Lei Wang, Wen Li
The role of chemokine receptor in age-related macular degeneration (AMD) remains elusive. The objective of this study is to investigate the role of chemokine receptor Cxcr5 in the pathogenesis of AMD. Cxcr5 gene expression levels (mRNA and protein) are higher in the retina and retinal pigment epithelium (RPE) of aged C57BL/6 wild type mice than younger ones. Vascular and glial cells express Cxcr5 and its ligand Cxcl13 in mouse retina. Aged Cxcr5 knockout (-/-) mice develop both early and late AMD-like pathological features...
2017: PloS One
https://www.readbyqxmd.com/read/28280483/outer-plexiform-layer-structures-are-not-altered-following-aav-mediated-gene-transfer-in-healthy-rat-retina
#13
Bert C Giers, Daniela Klein, Alexandra Mendes-Madeira, Carolina Isiegas, Birgit Lorenz, Silke Haverkamp, Knut Stieger
Ocular gene therapy approaches have been developed for a variety of different diseases. In particular, clinical gene therapy trials for RPE65 mutations, X-linked retinoschisis, and choroideremia have been conducted at different centers in recent years, showing that adeno-associated virus (AAV)-mediated gene therapy is safe, but limitations exist as to the therapeutic benefit and long-term duration of the treatment. The technique of vector delivery to retinal cells relies on subretinal injection of the vector solution, causing a transient retinal detachment...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28238097/igf-1-mediated-survival-from-induced-death-of-human-primary-cultured-retinal-pigment-epithelial-cells-is-mediated-by-an-akt-dependent-signaling-pathway
#14
Wenhua Zheng, Qian Meng, Haitao Wang, Fengxia Yan, Peter J Little, Xinguo Deng, Shaofen Lin
Degeneration of the human retinal pigmented epithelium (hRPE) is involved in several eye disorders such as age-related macular degeneration (AMD). In this study, we investigated the protective effect of IGF-1 on human primary cultured RPE cells and its underlying mechanism. IGF-1 dose- and time-dependently promoted the survival of RPE cells from serum deprivation. Western blot showed that IGF-1 stimulated the activation of the PI3K/Akt and MAPK pathways in hRPE. Inhibition of the PI3K/Akt pathway by the PI3K-specific inhibitor, LY294002 or inhibition of Akt by Akt-specific inhibitors Akt inhibitor VIII or SN-38, or downregulation Akt with siRNA specific for Akt blocked the effect of IGF-1 on hRPE...
February 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28237426/the-role-of-the-human-visual-cortex-in-assessment-of-the-long-term-durability-of-retinal-gene-therapy-in-follow-on-rpe65-clinical-trial-patients
#15
Manzar Ashtari, Elena S Nikonova, Kathleen A Marshall, Gloria J Young, Puya Aravand, Wei Pan, Gui-Shuang Ying, Aimee E Willett, Mani Mahmoudian, Albert M Maguire, Jean Bennett
PURPOSE: Gene therapy (GT) has offered immense hope to individuals who are visually impaired because of RPE65 mutations. Although GT has shown great success in clinical trials enrolling these individuals, evidence for stability and durability of this treatment over time is still unknown. Herein we explored the value of functional magnetic resonance imaging (fMRI) as an objective measure to assess independently the longevity of retinal GT. DESIGN: Individuals with RPE65 mutations who underwent GT in their worse-seeing eye in a phase 1 clinical trial received a second subretinal injection in their contralateral eye in a follow-on clinical trial...
February 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28202390/systemic-injection-of-rpe65-programmed-bone-marrow-derived-cells-prevents-progression-of-chronic-retinal-degeneration
#16
Xiaoping Qi, S Louise Pay, Yuanqing Yan, James Thomas, Alfred S Lewin, Lung-Ji Chang, Maria B Grant, Michael E Boulton
Bone marrow stem and progenitor cells can differentiate into a range of non-hematopoietic cell types, including retinal pigment epithelium (RPE)-like cells. In this study, we programmed bone marrow-derived cells (BMDCs) ex vivo by inserting a stable RPE65 transgene using a lentiviral vector. We tested the efficacy of systemically administered RPE65-programmed BMDCs to prevent visual loss in the superoxide dismutase 2 knockdown (Sod2 KD) mouse model of age-related macular degeneration. Here, we present evidence that these RPE65-programmed BMDCs are recruited to the subretinal space, where they repopulate the RPE layer, preserve the photoreceptor layer, retain the thickness of the neural retina, reduce lipofuscin granule formation, and suppress microgliosis...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28130426/genetic-analysis-of-10-pedigrees-with-inherited-retinal-degeneration-by-exome-sequencing-and-phenotype-genotype-association
#17
Pooja Biswas, Jacque L Duncan, Bruno Maranhao, Igor Kozak, Kari Branham, Luis Gabriel, Jonathan H Lin, Giulio Barteselli, Mili Navani, John Suk, Michelle Parke, Catherine Schlechter, Richard G Weleber, John R Heckenlively, Gislin Dagnelie, Pauline Lee, S Amer Riazuddin, Radha Ayyagari
Our purpose was to identify causative mutations and characterize the phenotype associated with the genotype in 10 unrelated families with autosomal recessive retinal degeneration. Ophthalmic evaluation and DNA isolation were carried out in 10 pedigrees with inherited retinal degenerations (IRD). Exomes of probands from eight pedigrees were captured using Nimblegen V2/V3 or Agilent V5+UTR kits, and sequencing was performed on Illumina HiSeq. The DHDDS gene was screened for mutations in the remaining two pedigrees with Ashkenazi Jewish ancestry...
April 1, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28041994/a-dominant-mutation-in-rpe65-d477g-delays-dark-adaptation-and-disturbs-the-visual-cycle-in-the-mutant-knock-in-mice
#18
Younghwa Shin, Gennadiy Moiseyev, Dibyendu Chakraborty, Jian-Xing Ma
RPE65 is an indispensable component of the retinoid visual cycle in vertebrates, through which the visual chromophore 11-cis-retinal (11-cis-RAL) is generated to maintain normal vision. Various blinding conditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homozygous or compound heterozygous mutations in RPE65. Herein, we investigated D477G missense mutation, an unprecedented dominant-acting mutation of RPE65 identified in patients with autosomal dominant RP...
March 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#19
Thomas C Hohman
As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to create animal models in which individual gene were altered to match the human mutations. The retina of these animals were then characterized to assess whether the mutated genes produced retinal phenotypes characteristic of disease-affected patients. Following the identification of a subpopulation of patients with the affected gene and the development of techniques for the viral gene transduction of retinal cells, it has become possible to deliver a copy of the normal gene into the retinal sites of the mutated genes...
December 30, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/27943290/isolation-characterization-and-establishment-of-spontaneously-immortalized-cell-line-hrpe-2s-with-stem-cell-properties
#20
Hoda Shams Najafabadi, Zahra-Soheila Soheili, Shahram Samiei, Hamid Ahmadieh, Ehsan Ranaei Pirmardan, Maryam Masoomi
The retinal pigment epithelium is a monolayer of highly specialized pigmented cells located between the neural retina and the Bruch's membrane of the choroid. RPE cells play a crucial role in the maintenance and function of the underlying photoreceptors. This study introduces a spontaneously arising human retinal pigment epithelial cell line, HRPE-2S, which was isolated from primary RPE cell culture of 2 days old male donor. We characterized morphology and functional properties of the new cell line. The immortalized cell line was maintained in culture for more than 70 passages and 240 divisions...
December 12, 2016: Journal of Cellular Physiology
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