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Michael Fenech, Armen Nersesyan, Siegfried Knasmueller
Formaldehyde (FAL) is classified as a Class I carcinogen by the WHO International Agency for Research on Cancer. Therefore, there is a need to validate appropriate methods for detecting its genotoxic effects in vivo in humans. One of the most commonly used methods to measure the genotoxic effects of exposure to environmental chemicals is the lymphocyte cytokinesis-block micronucleus (L-CBMN assay). We performed a systematic review and statistical analysis of the results from all of the published studies in which the L-CBMN assay was used to measure the genotoxic effects of human exposure to FAL...
October 2016: Mutation Research
Luke McAlary, J Andrew Aquilina, Justin J Yerbury
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the rapid and progressive degeneration of upper and lower motor neurons in the spinal cord, brain stem and motor cortex. The first gene linked to ALS was the gene encoding the free radical scavenging enzyme superoxide dismutase-1 (SOD1) that currently has over 180, mostly missense, ALS-associated mutations identified. SOD1-associated fALS patients show remarkably broad mean survival times (<1 year to ~17 years death post-diagnosis) that are mutation dependent...
2016: Frontiers in Neuroscience
Jin Sun Choi, Kidae Kim, Do Hee Lee, Sayeon Cho, Jae Du Ha, Byoung Chul Park, Sunhong Kim, Sung Goo Park, Jeong-Hoon Kim
Although the ubiquitin-proteasome system is believed to play an important role in the pathogenesis of familial amyotrophic lateral sclerosis (FALS), caused by mutations in Cu/Zn-superoxide dismutase 1 (SOD1), the mechanism of how mutant SOD1 protein is regulated in cells is still poorly understood. Here we have demonstrated that cellular inhibitor of apoptosis proteins (cIAPs) are specifically associated with FALS-linked mutant SOD1 (mSOD1) and that this interaction promotes the ubiquitin-dependent proteasomal degradation of mutant SOD1...
October 20, 2016: Biochemical and Biophysical Research Communications
Izabella Uchmanowicz, Beata Jankowska-Polanska, Mariusz Chabowski, Bartosz Uchmanowicz, Andrzej M Fal
COPD is one of the most debilitating diseases. Frailty syndrome and advanced age may decrease the acceptance of illness, quality of life, and worsen health conditions in these patients, as well as lead to an increase in health care expenses. The aim of the study was to assess how the level of frailty affects the acceptance of illness in elderly patients with COPD. We also aimed to evaluate the associations between sociodemographic and clinical factors and the level of acceptance of illness, anxiety, and frailty in this group of patients...
2016: International Journal of Chronic Obstructive Pulmonary Disease
Andrzej M Fal, Frank Conrad, Karina Schönknecht, Hartwig Sievers, Anna Pawińska
THE AIM: The in-vitro antiviral activity of the "Virus Blocking Factor" (VBF), a combination of Pelargonium extract and Sambucus juice with addition of Betaglucan 1,3 / 1,6, Zincum gluconium, Acidum ascorbicum, was studied against human pathogenic viruses: Influenza A H1N1 (FluA H1N1), Rhinovirus B subtype 14 (HRV14), Respiratory Syncytial Virus (RSV), Parainfluenzavirus subtype 3 (Para 3), and Adenovirus C subtype 5 (Adeno 5). METHOD: Antiviral activity was assessed using plaque-reduction assays after adding the test substance post infection of the MDCK, HeLa and HEp-2 cells with the viruses...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Jacob I Ayers, Jeffrey Diamond, Adriana Sari, Susan Fromholt, Ahmad Galaleldeen, Lyle W Ostrow, Jonathan D Glass, P John Hart, David R Borchelt
Evidence of misfolded wild-type superoxide dismutase 1 (SOD1) has been detected in spinal cords of sporadic ALS (sALS) patients, suggesting an etiological relationship to SOD1-associated familial ALS (fALS). Given that there are currently a number of promising therapies under development that target SOD1, it is of critical importance to better understand the role of misfolded SOD1 in sALS. We previously demonstrated the permissiveness of the G85R-SOD1:YFP mouse model for MND induction following injection with tissue homogenates from paralyzed transgenic mice expressing SOD1 mutations...
December 2016: Acta Neuropathologica
Ivana Sirangelo, Filomena M Vella, Gaetano Irace, Giuseppe Manco, Clara Iannuzzi
Superoxide dismutase 1 (SOD1) has been implicated with familial amyotrophic lateral sclerosis (fALS) through accumulation of protein amyloid aggregates in motor neurons of patients. Amyloid aggregates and protein inclusions are a common pathological feature of many neurological disorders in which protein aggregation seems to be directly related to neurotoxicity. Although, extensive studies performed on the aggregation process of several amyloidogenic proteins in vitro allowed the identification of many physiological factors involved, the molecular mechanisms underlying the formation of amyloid aggregates in vivo and in pathological conditions are still poorly understood...
2016: Frontiers in Molecular Biosciences
Stavroula Tsitkanou, Paul A Della Gatta, Aaron P Russell
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a fatal motor neuron disorder. It results in progressive degeneration and death of upper and lower motor neurons, protein aggregation, severe muscle atrophy and respiratory insufficiency. Median survival with ALS is between 2 and 5 years from the onset of symptoms. ALS manifests as either familial ALS (FALS) (~10% of cases) or sporadic ALS (SALS), (~90% of cases). Mutations in the copper/zinc (CuZn) superoxide dismutase (SOD1) gene account for ~20% of FALS cases and the mutant SOD1 mouse model has been used extensively to help understand the ALS pathology...
2016: Frontiers in Physiology
Anna Dor-Wojnarowska, Jerzy Liebhart, Jadwiga Miecielica, Marek Rabski, Andrzej Fal, Bolesław Samoliński, Marita Nittner-Marszalska
The objective of our study was to evaluate the impact of sex and age on the prevalence of sensitization to inhalant allergens. The study was performed as a part of Polish Epidemiology of Allergic Diseases study, and data concerning citizens of Wroclaw were analyzed. The participants were divided into three age groups (6-7, 13-14, and 20-44 years) with a subdivision according to sex. We randomly selected 1409 individuals, 439 people complied; the complete set of tests was performed on 421 of them. We found that 37...
September 20, 2016: Archivum Immunologiae et Therapiae Experimentalis
Eva-Maria Rummel, Piero Mastrorilli, Stefano Todisco, Mario Latronico, Gábor Balázs, Alexander V Virovets, Manfred Scheer
By employing silver salts with a weakly coordinating anion Ag[A] ([A]=[FAl{OC12 F15 }3 ], [Al{OC(CF3 )3 }4 ]), two phosphaalkynes could be coordinated side-on to a bare silver(I) center to form the unprecedented homoleptic complexes [Ag(η(2) -P≡CtBu)2 ][FAl{OC12 F15 }3 ] (1) and [Ag(η(2) -P≡CtBu)2 ][Al{OC(CF3 )3 }4 ] (2). DFT calculations show that the perpendicular arrangement in 1 is the minimum energy structure of the coordination of the two phosphaalkynes to a silver atom, whereas for 2 a unique square-planar coordination mode of the phosphaalkynes at Ag(+) was found...
October 10, 2016: Angewandte Chemie
Koji Matsukawa, Tadafumi Hashimoto, Taisei Matsumoto, Ryoko Ihara, Takahiro Chihara, Masayuki Miura, Tomoko Wakabayashi, Takeshi Iwatsubo
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive and selective loss of motor neurons. Causative genes for familial ALS (fALS), e.g. TARDBP or FUS/TLS, have been found, among which mutations within the profilin 1 (PFN1) gene have recently been identified in ALS18. To elucidate the mechanism whereby PFN1 mutations lead to neuronal death, we generated transgenic Drosophila melanogaster overexpressing human PFN1 in the retinal photoreceptor neurons. Overexpression of wild-type or fALS mutant PFN1 caused no degenerative phenotypes in the retina...
November 4, 2016: Journal of Biological Chemistry
Cristina Mediavilla, Mar Martin-Signes, Severiano Risco
Flavour aversion learning (FAL) and conditioned flavour preference (CFP) facilitate animal survival and play a major role in food selection, but the neurobiological mechanisms involved are not completely understood. Neuroanatomical bases of CFP were examined by using Fos immunohistochemistry to record neuronal activity. Rats were trained over eight alternating one-bottle sessions to acquire a CFP induced by pairing a flavour with saccharin (grape was CS+ in Group 1; cherry in Group 2; in Group 3, grape/cherry in half of animals; Group 4, grape/cherry in water)...
2016: Scientific Reports
Janet D Talbot, John N Barrett, Doris Nonner, Zhongsheng Zhang, Kyle Wicomb, Ellen F Barrett
In mutant superoxide dismutase 1 (SOD1) mouse models of familial amyotrophic lateral sclerosis (fALS) some of the earliest signs of morphological and functional damage occur in the motor nerve terminals that innervate fast limb muscles. This study tested whether localized peripheral application of a protective drug could effectively preserve neuromuscular junctions in late-stage disease. Methylene blue (MB), which has mitochondria-protective properties, was infused via an osmotic pump into the anterior muscle compartment of one hind limb of late pre- symptomatic SOD1-G93A mice for ≥3weeks...
November 2016: Experimental Neurology
Jacek Fal, Adriana Barylyak, Khrystyna Besaha, Yaroslav V Bobitski, Marian Cholewa, Izabela Zawlik, Kamil Szmuc, Józef Cebulski, Gaweł Żyła
The paper presents experimental studies of dielectric properties of nanofluids based on ethylene glycol and SC-TiO2 nanoparticles with average size of 15-40 nm with various mass concentrations. The dielectric permittivity both real part and imaginary part as a function of temperature and frequency were measured. Also, dependence ac conductivity on frequency, temperature, and mass concentration were investigated. Based on the curves of ac conductivity, dc conductivity was calculated, and 400 % enhancement in dc conductivity was exposed...
December 2016: Nanoscale Research Letters
Victor Banerjee, Tom Shani, Bella Katzman, Maria Vyazmensky, Niv Papo, Adrian Israelson, Stanislav Engel
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that leads to the death of the upper and lower motor neurons. Superoxide dismutase 1 (SOD1) is an ALS pathogenic protein, whose misfolding results in the formation of amyloid aggregates. The mechanism underlying SOD1 pathogenesis in ALS remains obscure, but one possible mechanism involves gain-of-interaction, in which the misfolded soluble SOD1 forms abnormal protein-protein interactions (PPIs) with various cellular proteins, including with other SOD1 molecules, thereby interfering with their function...
August 19, 2016: ACS Chemical Neuroscience
Zineb Medjahed, Dina Atmani-Kilani, Marie-Laure Fauconnier, Gaëtan Richard, Djebbar Atmani
BACKGROUND/AIM: The present study was designed to explore antidiabetic and hepatoprotective potentials of Fraxinus angustifolia leaf (FAL) and bark (FAB) extracts in vivo. MATERIALS AND METHODS: Streptozotocin (STZ)-induced diabetic rats, pretreated with the extracts (25 and 50 mg/kg), were monitored for fasting blood glucose (FBG) levels. Hepatoprotective potential was examined after injection of an excessive dose of paracetamol (10 g/60 kg) by analysis of biochemical parameters (transaminases, bilirubin), malondialdehyde (MDA) levels, and histological sections...
2016: Turkish Journal of Medical Sciences
Chi Diem Doan, Chak Ming To, Mike De Vrieze, Frederic Lynen, Sabine Danthine, Allison Brown, Koen Dewettinck, Ashok R Patel
Elucidating the composition of waxes is of utmost importance to explain their behavior in liquid oil structuring. The chemical components (hydrocarbons - HCs, free fatty acids - FFAs, free fatty alcohols - FALs and wax esters - WEs) of natural waxes were analyzed using HPLC-ELSD and GC-MS followed by evaluation of their oil structuring properties. The gel strength, including the average storage modulus and oscillation yield stress, displayed a negative correlation with FALs and a positive correlation with HCs, FFAs and WEs...
January 1, 2017: Food Chemistry
Wouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, Russell L McLaughlin, Frank P Diekstra, Sara L Pulit, Rick A A van der Spek, Urmo Võsa, Simone de Jong, Matthew R Robinson, Jian Yang, Isabella Fogh, Perry Tc van Doormaal, Gijs H P Tazelaar, Max Koppers, Anna M Blokhuis, William Sproviero, Ashley R Jones, Kevin P Kenna, Kristel R van Eijk, Oliver Harschnitz, Raymond D Schellevis, William J Brands, Jelena Medic, Androniki Menelaou, Alice Vajda, Nicola Ticozzi, Kuang Lin, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesus S Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E Morrison, Pamela J Shaw, John Hardy, Richard W Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanne Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A Ophoff, Kim A Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M Van Deerlin, John Q Trojanowski, Lauren Elman, Leo McCluskey, A Nazli Basak, Ceren Tunca, Hamid Hamzeiy, Yesim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov-Blagojevic, Christian R Andres, Cindy Maurel, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A M Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Hylke M Blauw, Anneke J van der Kooi, Marianne de Visser, An Goris, Markus Weber, Christopher E Shaw, Bradley N Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P Comi, Sandra D'Alfonso, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Bernard Muller, Robbert Jan Stuit, Ian Blair, Katharine Zhang, Emily P McCann, Jennifer A Fifita, Garth A Nicholson, Dominic B Rowe, Roger Pamphlett, Matthew C Kiernan, Julian Grosskreutz, Otto W Witte, Thomas Ringer, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A Hübner, P Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C Ludolph, Jochen H Weishaupt, Wim Robberecht, Philip Van Damme, Lude Franke, Tune H Pers, Robert H Brown, Jonathan D Glass, John E Landers, Orla Hardiman, Peter M Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Naomi R Wray, Peter M Visscher, Paul I W de Bakker, Michael A van Es, R Jeroen Pasterkamp, Cathryn M Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H van den Berg, Jan H Veldink
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk...
September 2016: Nature Genetics
Kevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, Nicola Ticozzi, Brendan J Kenna, Frank P Diekstra, Wouter van Rheenen, Kristel R van Eijk, Ashley R Jones, Pamela Keagle, Aleksey Shatunov, William Sproviero, Bradley N Smith, Michael A van Es, Simon D Topp, Aoife Kenna, Jack W Miller, Claudia Fallini, Cinzia Tiloca, Russell L McLaughlin, Caroline Vance, Claire Troakes, Claudia Colombrita, Gabriele Mora, Andrea Calvo, Federico Verde, Safa Al-Sarraj, Andrew King, Daniela Calini, Jacqueline de Belleroche, Frank Baas, Anneke J van der Kooi, Marianne de Visser, Anneloor L M A Ten Asbroek, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, José Luis Muñoz-Blanco, Tim M Strom, Thomas Meitinger, Karen E Morrison, Giuseppe Lauria, Kelly L Williams, P Nigel Leigh, Garth A Nicholson, Ian P Blair, Claire S Leblond, Patrick A Dion, Guy A Rouleau, Hardev Pall, Pamela J Shaw, Martin R Turner, Kevin Talbot, Franco Taroni, Kevin B Boylan, Marka Van Blitterswijk, Rosa Rademakers, Jesús Esteban-Pérez, Alberto García-Redondo, Phillip Van Damme, Wim Robberecht, Adriano Chio, Cinzia Gellera, Carsten Drepper, Michael Sendtner, Antonia Ratti, Jonathan D Glass, Jesús S Mora, Nazli A Basak, Orla Hardiman, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, Robert H Brown, Ammar Al-Chalabi, Vincenzo Silani, Christopher E Shaw, Leonard H van den Berg, Jan H Veldink, John E Landers
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261His variant as a candidate risk factor...
September 2016: Nature Genetics
Haishan Jiang, Hiroshi Shimizu, Atsushi Shiga, Masami Tanaka, Osamu Onodera, Akiyoshi Kakita, Hitoshi Takahashi
We previously reported familial amyotrophic lateral sclerosis (FALS) of 11 years duration in a 57-year-old woman, who received artificial ventilation for 5 years prior to death and exhibited widespread multisystem degeneration and neurofilamentous aggregates, so-called conglomerate inclusions (CIs). In the present study, we re-evaluated this autopsied patient (proband) with further immunohistochemical observation as well as mutational analysis of the superoxide dismutase 1 (SOD1) gene. A review of the clinical features of the proband's family revealed five affected members (including the proband) over two successive generations who showed marked variability in clinical presentation, such as the age at onset...
July 22, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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