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https://www.readbyqxmd.com/read/28522341/systemic-and-ocular-fluid-compounds-as-potential-biomarkers-in-age-related-macular-degeneration
#1
REVIEW
Eveline Kersten, Constantin C Paun, Rosa L Schellevis, Carel B Hoyng, Cécile Delcourt, Imre Lengyel, Tunde Peto, Marius Ueffing, Caroline C W Klaver, Sascha Dammeier, Anneke I den Hollander, Eiko K de Jong
Biomarkers can help unravel mechanisms of disease and identify new targets for therapy. They can also be useful in clinical practice for monitoring disease progression, evaluation of treatment efficacy and risk assessment in multifactorial diseases, such as age-related macular degeneration (AMD). AMD is a highly prevalent progressive retinal disorder for which multiple genetic and environmental risk factors have been described, but the exact etiology is not yet fully understood. Many compounds have been evaluated for their association with AMD...
May 15, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28482029/from-compliment-to-insult-genetics-of-the-complement-system-in-physiology-and-disease-in-the-human-retina
#2
Robert F Mullins, Alasdair N Warwick, Elliott H Sohn, Andrew J Lotery
Age-related macular degeneration (AMD) is a major cause of visual impairment that affects the central retina. Genome wide association studies and candidate gene screens have identified members of the complement pathway as contributing to the risk of AMD. In this review, we discuss the complement system, its importance in retinal development and normal physiology, how its dysregulation may contribute to disease, and how it might be targeted to prevent damage to the aging choriocapillaris in AMD.
May 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28456421/mendelian-randomization-implicates-high-density-lipoprotein-cholesterol-associated-mechanisms-in-etiology-of-age-related-macular-degeneration
#3
Stephen Burgess, George Davey Smith
PURPOSE: Undertake a systematic investigation into associations between genetic predictors of lipid fractions and age-related macular degeneration (AMD) risk. DESIGN: Two-sample Mendelian randomization investigation using published data. PARTICIPANTS: A total of 33 526 individuals (16 144 cases, 17 832 controls) predominantly of European ancestry from the International Age-related Macular Degeneration Genomics Consortium. METHODS: We consider 185 variants previously demonstrated to be associated with at least 1 of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, or triglycerides at a genome-wide level of significance, and test their associations with AMD...
April 26, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28446513/frequent-hypomorphic-alleles-account-for-a-significant-fraction-of-abca4-disease-and-distinguish-it-from-age-related-macular-degeneration
#4
Jana Zernant, Winston Lee, Frederick T Collison, Gerald A Fishman, Yuri V Sergeev, Kaspar Schuerch, Janet R Sparrow, Stephen H Tsang, Rando Allikmets
BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). Despite substantial progress in determining the causal genetic variation, even complete sequencing of the entire open reading frame and splice sites of ABCA4 identifies biallelic mutations in only 60%-70% of cases; 20%-25% remain with one mutation and no mutations are found in 10%-15% of cases with clinically confirmed ABCA4 disease...
April 26, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28440247/circulating-biomarkers-in-glaucoma-age-related-macular-degeneration-and-diabetic-retinopathy
#5
Madhu Nath, Nabanita Halder, Thirumurthy Velpandian
Biomarkers to predict the altering physiological conditions over the period leading toward the ocular disorders are of major importance in therapeutics. Isolation and validation of the biomarkers specific to ocular diseases are a challenging task. Glaucoma is a neurodegenerative disease of the eye where the correlation of biomarkers in circulating fluid may be made specific for the eye. However, conditions such as wet age-related macular degeneration (AMD) and proliferative diabetic retinopathy (DR), circulating biomarkers might be having some degree of overlap with other conditions like cancer where a common factor such as angiogenesis is involved...
March 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28402189/going-non-viral-the-sleeping-beauty-transposon-system-breaks-on-through-to-the-clinical-side
#6
Michael Hudecek, Zsuzsanna Izsvák, Sandra Johnen, Matthias Renner, Gabriele Thumann, Zoltán Ivics
Molecular medicine has entered a high-tech age that provides curative treatments of complex genetic diseases through genetically engineered cellular medicinal products. Their clinical implementation requires the ability to stably integrate genetic information through gene transfer vectors in a safe, effective and economically viable manner. The latest generation of Sleeping Beauty (SB) transposon vectors fulfills these requirements, and may overcome limitations associated with viral gene transfer vectors and transient non-viral gene delivery approaches that are prevalent in ongoing pre-clinical and translational research...
April 12, 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28399268/vitreomacular-adhesion-and-its-association-with-age-related-macular-degeneration-in-a-population-based-setting-the-alienor-study
#7
Sarra Gattoussi, Audrey Cougnard-Grégoire, Marie-Noëlle Delyfer, Marie-Bénédicte Rougier, Cédric Schweitzer, Cécile Delcourt, Jean-François Korobelnik
Purpose: The purpose of this study was to describe vitreomacular adhesion (VMA), diagnosed with spectral-domain optical coherence tomography (SD-OCT), its risk factors, and its association with AMD in a population-based study of French elderly subjects. Methods: Six hundred twenty-two of 624 (99.7%) participants of the Alienor study (Bordeaux, France), ≥75 years of age, had gradable SD-OCT scans of the macula in at least one eye. VMA was defined as visible perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28397307/genetic-variants-in-micrornas-and-their-binding-sites-within-gene-3-utrs-associate-with-susceptibility-to-age-related-macular-degeneration
#8
Mohsen Ghanbari, Stefan J Erkeland, Lei Xu, Johanna M Colijn, Oscar H Franco, Abbas Dehghan, Caroline C W Klaver, Magda A Meester-Smoor
Age-related macular degeneration (AMD), the leading cause of blindness in the elderly, is a complex disease that results from multiple genetic and environmental factors. MicroRNAs (miRNAs) are small noncoding RNAs that post-transcriptionally regulate target mRNAs and are frequently implicated in human diseases. Here, we investigated the association of genetic variants in miRNAs and miRNA-binding sites within gene 3'-untranslated regions (3'UTRs) with AMD using data from the largest AMD genome-wide association study...
April 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28377496/ferrochelatase-is-a-therapeutic-target-for-ocular-neovascularization
#9
Halesha D Basavarajappa, Rania S Sulaiman, Xiaoping Qi, Trupti Shetty, Sardar Sheik Pran Babu, Kamakshi L Sishtla, Bit Lee, Judith Quigley, Sameerah Alkhairy, Christian M Briggs, Kamna Gupta, Buyun Tang, Mehdi Shadmand, Maria B Grant, Michael E Boulton, Seung-Yong Seo, Timothy W Corson
Ocular neovascularization underlies major blinding eye diseases such as "wet" age-related macular degeneration (AMD). Despite the successes of treatments targeting the vascular endothelial growth factor (VEGF) pathway, resistant and refractory patient populations necessitate discovery of new therapeutic targets. Using a forward chemical genetic approach, we identified the heme synthesis enzyme ferrochelatase (FECH) as necessary for angiogenesis in vitro and in vivo FECH is overexpressed in wet AMD eyes and murine choroidal neovascularization; siRNA knockdown of Fech or partial loss of enzymatic function in the Fech(m1Pas) mouse model reduces choroidal neovascularization...
April 4, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28347358/genetic-pleiotropy-between-age-related-macular-degeneration-and-16-complex-diseases-and-traits
#10
Felix Grassmann, Christina Kiel, Martina E Zimmermann, Mathias Gorski, Veronika Grassmann, Klaus Stark, Iris M Heid, Bernhard H F Weber
BACKGROUND: Age-related macular degeneration (AMD) is a common condition of vision loss with disease development strongly influenced by environmental and genetic factors. Recently, 34 loci were associated with AMD at genome-wide significance. So far, little is known about a genetic overlap between AMD and other complex diseases or disease-relevant traits. METHODS: For each of 60 complex diseases/traits with publicly available genome-wide significant association data, the lead genetic variant per independent locus was extracted and a genetic score was calculated for each disease/trait as the weighted sum of risk alleles...
March 27, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28343170/mirnas-single-nucleotide-polymorphisms-snps-and-age-related-macular-degeneration-amd
#11
REVIEW
John Paul SanGiovanni, Peter M SanGiovanni, Przemysław Sapieha, Vincent De Guire
Advanced age-related macular degeneration (AAMD) is a complex sight-threating disease of public health significance. Micro RNAs (miRNAs) have been proposed as biomarkers for AAMD. The presence of certain single nucleotide polymorphisms (SNPs) may influence the explanatory value of these biomarkers. Here we present findings from an integrated approach used to determine whether AAMD-associated SNPs have the capacity to influence miRNA-mRNA pairing and, if so, to what extent such pairing may be manifested in a discrete AAMD transcriptome...
May 1, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28341650/bivariate-analysis-of-age-related-macular-degeneration-progression-using-genetic-risk-scores
#12
Ying Ding, Yi Liu, Qi Yan, Lars G Fritsche, Richard J Cook, Traci Clemons, Rinki Ratnapriya, Michael L Klein, Gonçalo R Abecasis, Anand Swaroop, Emily Y Chew, Daniel E Weeks, Wei Chen
Age-related macular degeneration (AMD) is a leading cause of blindness in the developed world. While many AMD susceptibility variants have been identified, their influence on AMD progression has not been elucidated. Using data from two large clinical trials, Age-Related Eye Disease Study (AREDS) and AREDS2, we evaluated the effects of 34 known risk variants on disease progression. In doing so, we calculated the eye-level time-to-late AMD and modeled them using a bivariate survival analysis approach, appropriately accounting for between-eye correlation...
May 2017: Genetics
https://www.readbyqxmd.com/read/28332910/association-between-dietary-xanthophyll-lutein-and-zeaxanthin-intake-and-early-age-related-macular-degeneration-the-atherosclerosis-risk-in-communities-study
#13
Henry Lin, Julie A Mares, Michael J LaMonte, William E Brady, Michelle W Sahli, Ronald Klein, Barbara E K Klein, Jing Nie, Amy E Millen
PURPOSE: To examine the association between xanthophyll intake and prevalent early age-related macular degeneration (AMD) using data from the Atherosclerosis Risk in Communities Study (n = 10,295). Potential effect modification by genetic polymorphisms and biomarkers of high-density lipoprotein (HDL) metabolism was explored. METHODS: Xanthophyll intake was assessed at visit 1 (1987-1989) using food frequency questionnaires. Prevalent early AMD was assessed at visit 3 (1993-1995) via retinal photographs...
March 23, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28260367/-the-pharmacogenomics-of-cfh-y402h-and-wet-age-related-macular-degeneration
#14
L L Chen, Y Y Chen
Age-related macular degeneration(AMD) is one of the main leading causes of irreversible vision damage in patients over 50 years old. Genetic factors play an important role in the occurrence and development of AMD. Since the significant correlation between complement factor H (CFH) gene and AMD was found, the pharmacogenomics of CFH polymorphism was paid close attention by academic circles. Among which, studies concerning CFH Y402H were more deeply. Studies have found CFH Y402H genotypes might lead to differences toward the outcome of PDT and anti-VEGF treatment...
February 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28251353/prevalence-and-characteristics-of-pseudodrusen-subtypes-in-advanced-age-related-macular-degeneration
#15
Taiyo Shijo, Yoichi Sakurada, Seigo Yoneyama, Atsushi Sugiyama, Wataru Kikushima, Naohiko Tanabe, Hiroyuki Iijima
PURPOSE: The purpose of our study was to investigate the clinical and genetic characteristics of pseudodrusen subtypes and their incidence in advanced age-related macular degeneration (AMD). METHODS: We studied 84 eyes from 84 patients with pseudodrusen associated with advanced AMD, including typical AMD, polypoidal choroidal vasculopathy (PCV), retinal angiomatous proliferation (RAP), and geographic atrophy (GA). Multiple imaging modalities, including color fundus photography, spectral-domain optical coherence tomography (SD-OCT), near-infrared reflectance, and fundus autofluorescence, were employed to diagnose pseudodrusen and its subtypes...
March 1, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28228273/compliments-of-factor-h-what-s-in-it-for-amd
#16
Mary J Mattapallil, Rachel R Caspi
Genetic variations in complement factor H (CFH) confer greater risk for age-related macular degeneration (AMD). In this issue of Immunity, Calippe et al. (2017) uncover a non-canonical role for CFH in the inhibition of mononuclear phagocyte elimination from sub-retinal lesions, providing insight into the pathophysiology of AMD associated with CFH variants.
February 21, 2017: Immunity
https://www.readbyqxmd.com/read/28209587/genome-surgery-using-cas9-ribonucleoproteins-for-the-treatment-of-age-related-macular-degeneration
#17
Kyoungmi Kim, Sung Wook Park, Jin Hyoung Kim, Seung Hwan Lee, Daesik Kim, Taeyoung Koo, Kwang-Eun Kim, Jeong Hun Kim, Jin-Soo Kim
RNA-guided genome surgery using CRISPR-Cas9 nucleases has shown promise for the treatment of diverse genetic diseases. Yet, the potential of such nucleases for therapeutic applications in nongenetic diseases is largely unexplored. Here, we focus on age-related macular degeneration (AMD), a leading cause of blindness in adults, which is associated with retinal overexpression of, rather than mutations in, the VEGFA gene. Subretinal injection of preassembled, Vegfa gene-specific Cas9 ribonucleoproteins (RNPs) into the adult mouse eye gave rise to mutagenesis at the target site in the retinal pigment epithelium...
March 2017: Genome Research
https://www.readbyqxmd.com/read/28191500/insights-from-genetic-model-systems-of-retinal-degeneration-role-of-epsins-in-retinal-angiogenesis-and-vegfr2-signaling
#18
Yunzhou Dong, Xue Cai, Yong Wu, Yanjun Liu, Lin Deng, Hong Chen
The retina is a light sensitive tissue that contains specialized photoreceptor cells called rods and cones which process visual signals. These signals are relayed to the brain through interneurons and the fibers of the optic nerve. The retina is susceptible to a variety of degenerative diseases, including age-related macular degeneration (AMD), diabetic retinopathy (DR), retinitis pigmentosa (RP) and other inherited retinal degenerations. In order to reveal the mechanism underlying these diseases and to find methods for the prevention/treatment of retinal degeneration, animal models have been generated to mimic human eye diseases...
January 2017: Journal of Nature and Science
https://www.readbyqxmd.com/read/28154734/nutritional-and-lifestyle-interventions-for-age-related-macular-degeneration-a-review
#19
REVIEW
Ângela Carneiro, José Paulo Andrade
Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world. In this narrative review, we will summarize the nutritional interventions evaluated in numerous observational studies and a few randomized clinical trials. The AREDS and AREDS2 studies demonstrated that supplements including vitamins C and E, beta-carotene, and zinc may reduce the progression to advanced AMD, in some patients, by 25% in five years. This is one of the few nutritional supplements known to have beneficial effects in any eye disease...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28139756/simple-and-complex-retinal-dystrophies-are-associated-with-profoundly-different-disease-networks
#20
Christina Kiel, Claire Lastrucci, Philip J Luthert, Luis Serrano
Retinopathies are a group of monogenetic or complex retinal diseases associated with high unmet medical need. Monogenic disorders are caused by rare genetic variation and usually arise early in life. Other diseases, such as age-related macular degeneration (AMD), develop late in life and are considered to be of complex origin as they develop from a combination of genetic, ageing, environmental and lifestyle risk factors. Here, we contrast the underlying disease networks and pathological mechanisms of monogenic as opposed to complex retinopathies, using AMD as an example of the latter...
January 31, 2017: Scientific Reports
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