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Clarissa Valdez, Yvette C Wong, Michael Schwake, Guojun Bu, Zbigniew K Wszolek, Dimitri Krainc
Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders characterized by cognitive and behavioral impairments. Heterozygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN expression and lead to the neurodegenerative lysosomal storage disorder neuronal ceroid lipofuscinosis (NCL). However, how dose-dependent PGRN mutations contribute to these two different diseases is not well understood...
September 25, 2017: Human Molecular Genetics
Lyam Ciccone, Winston Lee, Jana Zernant, Koji Tanaka, Kaspar Schuerch, Stephen H Tsang, Rando Allikmets
PURPOSE: To describe an unusual manifestation of hyperreflective deposits in the subretinal space in a group of patients with clinically and genetically confirmed Stargardt disease. METHODS: Retrospective review of color fundus, autofluorescence, infrared reflectance, red-free images, and spectral domain optical coherence tomography in 296 clinically diagnosed and genetically confirmed (2 expected disease-causing mutations in ABCA4) patients with Stargardt disease...
October 12, 2017: Retina
Giulio Bamonte, Andrea Appeltans, Maria Vittoria Cicinelli, Giuseppe Querques
PURPOSE: To describe cases of reabsorption of subretinal acquired vitelliform material (acquired vitelliform lesion [AVL]) associated with vitreomacular disorders after 25-gauge pars plana vitrectomy and peeling of internal limiting membrane. METHODS: Data of consecutive patients who underwent 25-gauge transconjunctival pars plana vitrectomy for vitreomacular disorders at the Department of Ophthalmology of the University Hospital of Brussels (Belgium) were collected...
October 9, 2017: Retinal Cases & Brief Reports
Puneet Gandhi, Richa Khare
OBJECTIVE: Autofluorescence induced interference is one of the major drawbacks in immunofluorescence analysis of formalin-fixed paraffin-embedded tissues, as it decreases the signal-to-noise ratio of specific labeling. Apart from aldehyde-fixation induced artifacts; collagen and elastin, red blood cells and endogenous fluorescent pigment lipofuscin are prime sources of autofluorescence in vascular and aging tissues. We describe herein, an optimized indirect-immunofluorescence method for archival formalin-fixed paraffin-embedded tissues tissues and cryo sections, using a combination of 3-reagents in a specific order, to achieve optimal fluorescence signals and imaging...
October 6, 2017: Türk Patoloji Dergisi
Jing Lu, Yan Luo, Lin Lu
BACKGROUND: Vitreous cysts are rare clinical findings and seldom cause visual disturbance. They are generally classified as congenital or acquired and are considered idiopathic when the etiology can not be determined. A previous electron microscopic observation on an idiopathic pigmented vitreous cyst has confirmed its pigment epithelial origin. However, the specific kind of pigment epithelium involved remains unclear. CASE PRESENTATION: A 39-year-old female presented with a round-shaped floater causing frequent visual disturbance in the left eye...
October 3, 2017: BMC Ophthalmology
Chunhe Chen, Leopold Adler, Patrice Goletz, Federico Gonzalez-Fernandez, Debra A Thompson, Yiannis Koutalos
Interphotoreceptor retinoid-binding protein (IRBP) is a specialized lipophilic carrier that binds the all-trans and 11-cis isomers of retinal and retinol, and facilitates their transport between photoreceptors and cells in the retina. One of these retinoids, all-trans retinal, is released in the rod outer segment by photoactivated rhodopsin after light excitation. Following its release, all-trans retinal is reduced by the retinol dehydrogenase RDH8 to all-trans retinol in an NADPH-dependent reaction. However, all-trans retinal can also react with outer segment components, sometimes forming lipofuscin precursors, which after conversion to lipofuscin accumulate in the lysosomes of the retinal pigment epithelium and display cytotoxic effects...
September 28, 2017: Journal of Biological Chemistry
Magdalena M Olchawa, Justyna A Furso, Grzegorz M Szewczyk, Tadeusz J Sarna
The risk of chronic oxidative stress in the retinal pigment epithelium (RPE) increases with age due to accumulation of the photoreactive age pigment lipofuscin (LFG). Here, we asked whether sublethal and weakly lethal photic stress, induced by irradiation of ARPE-19 cells containing phagocytised LFG, affected the cell specific phagocytic activity, which is critically important for proper functioning and survival of the retina, and if natural antioxidants could modify the observed outcomes. ARPE-19 cells preloaded with LFG isolated from human donors of different age or containing LFG enriched with zeaxanthin and α-tocopherol (LFG-A), were irradiated with blue light...
October 3, 2017: Free Radical Research
Vishruth Gowda, Jennifer Foulke-Abel, Hillary Agbo, Bennie Bench, Jooyeon Chae, William K Russell, Coran M H Watanabe
Lipofuscins are toxic autofluorescent byproducts of the visual cycle. The accumulation of lipofuscins such as cycloretinal in the retina is attributed to playing a role in the progression of age-related macular degeneration (AMD). Intriguingly, the milk protein β-lactoglobulin (BLG) can promote the cyclodimerization of all-trans retinal to cycloretinal both in vitro and in vivo. Here, site-directed mutagenesis of BLG as well as mass spectrometric analysis with substrate analogs demonstrate that lysine residues play a key role in catalysis...
September 29, 2017: Biochemistry
Koji Tanaka, Winston Lee, Jana Zernant, Kaspar Schuerch, Lyam Ciccone, Stephen H Tsang, Janet R Sparrow, Rando Allikmets
PURPOSE: To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. DESIGN: Comparative cohort study. PARTICIPANTS: Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease. MAIN OUTCOME MEASURES: Phenotypic characteristics were assessed on color fundus photographs, short-wavelength autofluorescence (488-nm), and near-infrared autofluorescence (NIR-AF, 787-nm) images...
September 22, 2017: Ophthalmology
Virgine Laurent, Anamika Sengupta, Aída Sánchez-Bretaño, David Hicks, Gianluca Tosini
Earlier studies in Xenopus have indicated a role for melatonin in the regulation of retinal disk shedding, but the role of melatonin in the regulation of daily rhythm in mammalian disk shedding and phagocytosis is still unclear. We recently produced a series of transgenic mice lacking melatonin receptor type 1 (MT1) or type 2 (MT2) in a melatonin-proficient background and have shown that removal of MT1 and MT2 receptors induces significant effects on daily and circadian regulation of the electroretinogram as well as on the viability of photoreceptor cells during aging...
September 21, 2017: Experimental Eye Research
A E Dontsov, N L Sakina, M A Ostrovsky
The effect of superoxide radicals on melanin destruction and degradation of melanosomes isolated from cells of retinal pigment epithelium (RPE) of the human eye was studied. We found that potassium superoxide causes destruction of melanin in melanosomes of human and bovine RPE, as well as destruction of melanin from the ink bag of squid, with the formation of fluorescent decay products having an emission maximum at 520-525 nm. The initial kinetics of the accumulation of the fluorescent decay products is linear...
August 2017: Biochemistry. Biokhimii︠a︡
Mehmet Yakin, Umit Eksioglu, Murat Sadic, Gokhan Koca, Guner Ozkan-Uney, Nihat Yumusak, Hande Husniye Telek, Ayten Demir, Nuray Yazihan, Firdevs Ornek, Meliha Korkmaz
PURPOSE: To evaluate protective effect of coenzyme Q10 (CoQ10) in lacrimal glands against high-dose radioactive iodine (RAI)-associated oxidative damage. MATERIALS AND METHODS: Thirty Wistar albino rats were randomly divided into three groups. Group 1 was the control group. Group 2 received 3 mCi/kg RAI via gastric gavage but no medication. Group 3 received 3 mCi/kg RAI via gastric gavage and 30 mg/kg/day CoQ10 intraperitoneally. CoQ10 was started at day one just before RAI administration and continued for five days...
September 22, 2017: Current Eye Research
Z Chmatalova, M Vyhnalek, J Laczo, J Hort, R Pospisilova, M Pechova, A Skoumalova
Increased oxidative stress in the brain during the course of Alzheimer's disease (AD) leads to an imbalance of antioxidants and formation of free radical reaction end-products which may be detected in blood as fluorescent lipofuscin-like pigments (LFPs). The aim of this study was to evaluate and compare LFPs with plasma selenium concentrations representing an integral part of the antioxidant system. Plasma samples from subjects with AD dementia (ADD; n=11), mild cognitive impairment (MCI; n=17) and controls (n=12), were collected...
September 22, 2017: Physiological Research
Olujimi A Ajijola, Donald B Hoover, Thomas M Simerly, T Christopher Brown, Jane Yanagawa, Reshma M Biniwale, Jay M Lee, Ali Sadeghi, Negar Khanlou, Jeffrey L Ardell, Kalyanam Shivkumar
BACKGROUND: Neuronal remodeling in human heart disease is not well understood. METHODS: Stellate ganglia from patients with cardiomyopathy (CMY) and refractory ventricular arrhythmias undergoing cardiac sympathetic denervation (n = 8), and from organ donors with normal hearts (n = 8) collected at the time of organ procurement were compared. Clinical data on all subjects were reviewed. Electron microscopy (EM), histologic, and immunohistochemical assessments of neurotransmitter profiles, glial activation and distribution, and lipofuscin deposition, a marker of oxidative stress, were quantified...
September 21, 2017: JCI Insight
Thomas P Wellings, Alan M Brichta, Rebecca Lim
A major cause of morbidity in Parkinson's disease (PD) is postural instability. The neuropathology underlying postural instability is unknown. Postural control is mediated by Deiters' neurons of the lateral vestibular nucleus (LVN), which are the brainstem origin of descending vestibulospinal reflexes. Deiters' neurons express the cytostructural protein, non-phosphorylated neurofilament protein (NPNFP). In PD, reduced expression of NPNFP in substantia nigra (SN) neurons is believed to contribute to dysfunction...
September 19, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
Shinya Kitamura, Teruki Yanagi, Keisuke Imafuku, Hiroo Hata, Hiroshi Shimizu
Apocrine hidrocystoma (AHC) is a benign cystic lesion arising from apocrine glands and frequently presents as a blue hae with a whitish gloss. It has been reported that the amount of lipofuscin and the degree of its oxidation determines the pigmentation of AHC. However, little is known about the correlation between clinical color and lipofuscin granules. In this study, we histopathologically investigated three cases of AHC and statistically analyzed the quantitative correlation between the clinical color tone and the amount of cytoplasmic lipofuscin deposits...
September 18, 2017: Journal of Dermatology
Edoardo Abed, Giorgio Placidi, Luigi Calandriello, Marco Piccardi, Francesca Campagna, Matteo Bertelli, Angelo Maria Minnella, Maria Cristina Savastano, Benedetto Falsini
Stargardt disease (STGD1) is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment epithelium. The aim of this study was to evaluate the relationship between cone photoreceptor function and structure in STGD1. Macular function was assessed by visual acuity measurement and focal electroretinogram (FERG) recording while spectral domain optical coherence tomography (SD-OCT) imaging was performed to evaluate the integrity of photoreceptors...
2017: Journal of Ophthalmology
Yulong Sun, Philbert Ip, Avijit Chakrabartty
Immunofluorescence is a common method used to visualize subcellular compartments and to determine the localization of specific proteins within a tissue sample. A great hindrance to the acquisition of high quality immunofluorescence images is endogenous autofluorescence of the tissue caused by aging pigments such as lipofuscin or by common sample preparation processes such as aldehyde fixation. This protocol describes how background fluorescence can be greatly reduced through photobleaching using white phosphor light emitting diode (LED) arrays prior to treatment with fluorescent probes...
September 3, 2017: Journal of Visualized Experiments: JoVE
Géraldine Patey, Catherine M Couillard, Fabien Pierron, Magalie Baudrimont, Patrice Couture
Since the early 1980s, populations of American (Anguilla rostrata) and European eels (Anguilla anguilla) have suffered a sharp decline. The causes of their decline are likely multifactorial and include chemical pollution. A field study was conducted in eight sites varying in organic and metal contamination along the St. Lawrence (Eastern Canada) and Gironde (France) systems to investigate the relationships among contaminants, biological characteristics and biotransformation, antioxidant and histopathological biomarkers in eels from both species...
August 28, 2017: Chemosphere
J-L Bacquet, M Sarov-Rivière, C Denier, G Querques, B Riou, L Bonin, E Barreau, M Labetoulle, A Rousseau
IMPORTANCE: Retinal artery occlusion (RAO) is a medical emergency associated with a high risk of cerebral vascular accident and other cardiovascular events. Among patients with non-arteritic RAO, a retinal embolus is observed in approximately 40% of cases. Fundus examination and retinography are not reliable to predict the nature of the emboli. OBSERVATIONS: We report three consecutive cases of central and branch RAO that were investigated with fundus autofluorescence, fluorescein angiography and color retinal photographs...
October 2017: Journal Français D'ophtalmologie
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