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Huntington disease

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https://www.readbyqxmd.com/read/28213125/reduced-bioavailable-manganese-causes-striatal-urea-cycle-pathology-in-huntington-s-disease-mouse-model
#1
Terry Jo V Bichell, Michal Wegrzynowicz, K Grace Tipps, Emma M Bradley, Michael A Uhouse, Miles Bryan, Kyle Horning, Nicole Fisher, Karrie Dudek, Timothy Halbesma, Preethi Umashanker, Andrew D Stubbs, Hunter K Holt, Gunnar F Kwakye, Andrew M Tidball, Roger J Colbran, Michael Aschner, M Diana Neely, Alba Di Pardo, Vittorio Maglione, Alexander Osmand, Aaron B Bowman
Huntington's disease (HD) is caused by a mutation in the huntingtin gene (HTT), resulting in profound striatal neurodegeneration through an unknown mechanism. Perturbations in the urea cycle have been reported in HD models and in HD patient blood and brain. In neurons, arginase is a central urea cycle enzyme, and the metal manganese (Mn) is an essential cofactor. Deficient biological responses to Mn, and reduced Mn accumulation have been observed in HD striatal mouse and cell models. Here we report in vivo and ex vivo evidence of a urea cycle metabolic phenotype in a prodromal HD mouse model...
February 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28211597/data-quality-assurance-and-control-in-cognitive-research-lessons-learned-from-the-predict-hd-study
#2
Holly James Westervelt, Rachel A Bernier, Melanie Faust, Mary Gover, H Jeremy Bockholt, Roland Zschiegner, Jeffrey D Long, Jane S Paulsen
We discuss the strategies employed in data quality control and quality assurance for the cognitive core of Neurobiological Predictors of Huntington's Disease (PREDICT-HD), a long-term observational study of over 1,000 participants with prodromal Huntington disease. In particular, we provide details regarding the training and continual evaluation of cognitive examiners, methods for error corrections, and strategies to minimize errors in the data. We present five important lessons learned to help other researchers avoid certain assumptions that could potentially lead to inaccuracies in their cognitive data...
February 17, 2017: International Journal of Methods in Psychiatric Research
https://www.readbyqxmd.com/read/28211486/motor-phenotype-is-not-associated-with-vascular-dysfunction-in-symptomatic-huntington-s-disease-transgenic-r6-2-160-cag-mice
#3
A Di Pardo, A Carrizzo, A Damato, S Castaldo, E Amico, L Capocci, M Ambrosio, F Pompeo, C De Sanctis, C C Spinelli, A A Puca, P Remondelli, V Maglione, C Vecchione
Whereas Huntington's disease (HD) is unequivocally a neurological disorder, a critical mass of emerging studies highlights the occurrence of peripheral pathology like cardiovascular defects in both animal models and humans. The overt impairment in cardiac function is normally expected to be associated with peripheral vascular dysfunction, however whether this assumption is reasonable or not in HD is still unknown. In this study we functionally characterized the vascular system in R6/2 mouse model (line 160 CAG), which recapitulates several features of human pathology including cardiac disease...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28210207/cannabinoid-receptor-2-signaling-in-neurodegenerative-disorders-from-pathogenesis-to-a-promising-therapeutic-target
#4
REVIEW
Tommaso Cassano, Silvio Calcagnini, Lorenzo Pace, Federico De Marco, Adele Romano, Silvana Gaetani
As a consequence of an increasingly aging population, the number of people affected by neurodegenerative disorders, such as Alzheimer's disease, Parkinson's disease and Huntington's disease, is rapidly increasing. Although the etiology of these diseases has not been completely defined, common molecular mechanisms including neuroinflammation, excitotoxicity and mitochondrial dysfunction have been confirmed and can be targeted therapeutically. Moreover, recent studies have shown that endogenous cannabinoid signaling plays a number of modulatory roles throughout the central nervous system (CNS), including the neuroinflammation and neurogenesis...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28209726/therapeutic-targeting-of-the-pathological-triad-of-extrasynaptic-nmda-receptor-signaling-in-neurodegenerations
#5
REVIEW
Hilmar Bading
Activation of extrasynaptic N-methyl-d-aspartate (NMDA) receptors causes neurodegeneration and cell death. The disease mechanism involves a pathological triad consisting of mitochondrial dysfunction, loss of integrity of neuronal structures and connectivity, and disruption of excitation-transcription coupling caused by CREB (cyclic adenosine monophosphate-responsive element-binding protein) shut-off and nuclear accumulation of class IIa histone deacetylases. Interdependency within the triad fuels an accelerating disease progression that culminates in failure of mitochondrial energy production and cell loss...
February 16, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28206985/-huntington-s-disease-in-balearic-islands-population-based-registry-of-rare-diseases-prevalence-and-mortality-during-the-period-2010-2013-spain
#6
Mercedes Cáffaro Rovira, M Magdalena Salom Castell
OBJECTIVE: Huntington's disease is a hereditary disease with low prevalence. The low frequency of Huntington's disease leads to its inclusion as one of the pathologies in the Registry of Rare Diseases. The Balearic Islands Population-based Registry of Rare Diseases began in 2010. Previously, there had been no prevalence or mortality data for Huntington's disease in the Balearic Islands. The aim of this study was to determine the prevalence and mortality of Huntington's disease in the Balearic Islands between 2010 and 2013...
February 16, 2017: Revista Española de Salud Pública
https://www.readbyqxmd.com/read/28205624/the-small-molecule-auten-99-autophagy-enhancer-99-prevents-the-progression-of-neurodegenerative-symptoms
#7
Tibor Kovács, Viktor Billes, Marcell Komlós, Bernadette Hotzi, Anna Manzéger, Anna Tarnóci, Diána Papp, Fanni Szikszai, Janka Szinyákovics, Ákos Rácz, Béla Noszál, Szilvia Veszelka, Fruzsina R Walter, Mária A Deli, Laszlo Hackler, Robert Alfoldi, Orsolya Huzian, Laszlo G Puskas, Hanna Liliom, Krisztián Tárnok, Katalin Schlett, Adrienn Borsy, Ervin Welker, Attila L Kovács, Zsolt Pádár, Attila Erdős, Adam Legradi, Annamaria Bjelik, Károly Gulya, Balázs Gulyás, Tibor Vellai
Autophagy functions as a main route for the degradation of superfluous and damaged constituents of the cytoplasm. Defects in autophagy are implicated in the development of various age-dependent degenerative disorders such as cancer, neurodegeneration and tissue atrophy, and in accelerated aging. To promote basal levels of the process in pathological settings, we previously screened a small molecule library for novel autophagy-enhancing factors that inhibit the myotubularin-related phosphatase MTMR14/Jumpy, a negative regulator of autophagic membrane formation...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28205498/cognitive-control-learning-and-clinical-motor-ratings-are-most-highly-associated-with-basal-ganglia-brain-volumes-in-the-premanifest-huntington-s-disease-phenotype
#8
Maria B Misiura, Spencer Lourens, Vince D Calhoun, Jeffrey Long, Jeremy Bockholt, Hans Johnson, Ying Zhang, Jane S Paulsen, Jessica A Turner, Jingyu Liu, Betul Kara, Elizabeth Fall
OBJECTIVES: Huntington's disease (HD) is a debilitating genetic disorder characterized by motor, cognitive and psychiatric abnormalities associated with neuropathological decline. HD pathology is the result of an extended chain of CAG (cytosine, adenine, guanine) trinucleotide repetitions in the HTT gene. Clinical diagnosis of HD requires the presence of an otherwise unexplained extrapyramidal movement disorder in a participant at risk for HD. Over the past 15 years, evidence has shown that cognitive, psychiatric, and subtle motor dysfunction is evident decades before traditional motor diagnosis...
February 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28204864/high-bioavailability-curcumin-an-anti-inflammatory-and-neurosupportive-bioactive-nutrient-for-neurodegenerative-diseases-characterized-by-chronic-neuroinflammation
#9
REVIEW
Faheem Ullah, Andy Liang, Alejandra Rangel, Erika Gyengesi, Garry Niedermayer, Gerald Münch
Neuroinflammation is a pathophysiological process present in a number of neurodegenerative disorders, such as Alzheimer's disease, Huntington's disease, Parkinson's disease, stroke, traumatic brain injury including chronic traumatic encephalopathy and other age-related CNS disorders. Although there is still much debate about the initial trigger for some of these neurodegenerative disorders, during the progression of disease, broad range anti-inflammatory drugs including cytokine suppressive anti-inflammatory drugs (CSAIDs) might be promising therapeutic options to limit neuroinflammation and improve the clinical outcome...
February 15, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28202696/low-cancer-prevalence-in-polyglutamine-expansion-diseases
#10
Giulia Coarelli, Alhassane Diallo, Morgane Sonia Thion, Daisy Rinaldi, Fabienne Calvas, Ouahid Lagha Boukbiza, Alina Tataru, Perrine Charles, Christine Tranchant, Cecilia Marelli, Claire Ewenczyk, Maya Tchikviladzé, Marie-Lorraine Monin, Bertrand Carlander, Mathieu Anheim, Alexis Brice, Fanny Mochel, Sophie Tezenas du Montcel, Sandrine Humbert, Alexandra Durr
OBJECTIVE: Polyglutamine (PolyQ) diseases are dominantly transmitted neurologic disorders, caused by coding and expanded CAG trinucleotide repeats. Cancer was reported retrospectively to be rare in patients with PolyQ diseases and we aimed to investigate its prevalence in France. METHODS: Consecutive patients with Huntington disease (HD) and spinocerebellar ataxia (SCA) were questioned about cancer, cardiovascular diseases, and related risk factors in 4 university hospitals in Paris, Toulouse, Strasbourg, and Montpellier...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28199087/expression-purification-and-properties-of-a-human-arachidonoyl-specific-isoform-of-diacylglycerol-kinase
#11
William Jennings, Sejal Doshi, Prasanta Kumar Hota, Aaron Prodeus, Stephanie Black, Richard M Epand
Diacylglycerol kinase epsilon (DGKε) catalyzes the phosphorylation of diacylglycerol producing phosphatidic acid. DGKε demonstrates exquisite specificity for the acyl chains of diacylglycerol. This contributes to the specificity of the PI-cycle for lipid intermediates containing particular acyl chains. Dysregulation of DGKε perturbs lipid signaling and biosynthesis, which has been linked to epilepsy, Huntington's disease and heart disease. Recessive loss-of-function mutations in the DGKε gene cause atypical hemolytic uremic syndrome...
February 15, 2017: Biochemistry
https://www.readbyqxmd.com/read/28196869/structural-insights-unravel-the-zymogenic-mechanism-of-the-virulence-factor-gingipain-k-from-porphyromonas-gingivalis-a-causative-agent-of-gum-disease-from-the-human-oral-microbiome
#12
Anja Pomowski, Isabel Uson, Zuzanna M Nowakowska, Florian Veillard, Maryta N Sztukowska, Tibisay Guevara, Theodoros Goulas, Danuta Mizgalska, Magdalena L Nowak, Barbara A Potempa, James A Huntington, Jan Potempa, F Xavier Gomis-Ruth
Skewing of the human oral microbiome causes dysbiosis and preponderance of bacteria such as Porphyromonas gingivalis, the main etiological agent of periodontitis. P. gingivalis secretes proteolytic gingipains (Kgp and RgpA/B) as zymogens inhibited by a pro-domain that is removed during extracellular activation. Unraveling the molecular mechanism of Kgp zymogenicity is essential to design inhibitors blocking its activity. Here, we found that the isolated 209-residue Kgp pro-domain is a boomerang-shaped all-β protein similar to the RgpB pro-domain...
February 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28195529/suppressor-of-cytokine-signaling-socs-5-ameliorates-influenza-infection-via-inhibition-of-egfr-signaling
#13
Lukasz Kedzierski, Michelle D Tate, Alan C Hsu, Tatiana B Kolesnik, Edmond M Linossi, Laura Dagley, Zhaoguang Dong, Sarah Freeman, Giuseppe Infusini, Malcolm R Starkey, Nicola L Bird, Simon M Chatfield, Jeffrey J Babon, Nicholas Huntington, Gabrielle Belz, Andrew Webb, Peter Ab Wark, Nicos A Nicola, Jianqing Xu, Katherine Kedzierska, Philip M Hansbro, Sandra E Nicholson
Influenza virus infections have a significant impact on global human health. Individuals with suppressed immunity, or suffering from chronic inflammatory conditions such as COPD, are particularly susceptible to influenza. Here we show that suppressor of cytokine signaling (SOCS) 5 has a pivotal role in restricting influenza A virus in the airway epithelium, through the regulation of epidermal growth factor receptor (EGFR). Socs5-deficient mice exhibit heightened disease severity, with increased viral titres and weight loss...
February 14, 2017: ELife
https://www.readbyqxmd.com/read/28194132/molecular-imaging-markers-to-track-huntington-s-disease-pathology
#14
REVIEW
Heather Wilson, Rosa De Micco, Flavia Niccolini, Marios Politis
Huntington's disease (HD) is a progressive, monogenic dominant neurodegenerative disorder caused by repeat expansion mutation in the huntingtin gene. The accumulation of mutant huntingtin protein, forming intranuclear inclusions, subsequently leads to degeneration of medium spiny neurons in the striatum and cortical areas. Genetic testing can identify HD gene carriers before individuals develop overt cognitive, psychiatric, and chorea symptoms. Thus, HD gene carriers can be studied in premanifest stages to understand and track the evolution of HD pathology...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28194101/contribution-of-neuroepigenetics-to-huntington-s-disease
#15
REVIEW
Laetitia Francelle, Caroline Lotz, Tiago Outeiro, Emmanuel Brouillet, Karine Merienne
Unbalanced epigenetic regulation is thought to contribute to the progression of several neurodegenerative diseases, including Huntington's disease (HD), a genetic disorder considered as a paradigm of epigenetic dysregulation. In this review, we attempt to address open questions regarding the role of epigenetic changes in HD, in the light of recent advances in neuroepigenetics. We particularly discuss studies using genome-wide scale approaches that provide insights into the relationship between epigenetic regulations, gene expression and neuronal activity in normal and diseased neurons, including HD neurons...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28194040/abnormal-degradation-of-the-neuronal-stress-protective-transcription-factor-hsf1-in-huntington-s-disease
#16
Rocio Gomez-Pastor, Eileen T Burchfiel, Daniel W Neef, Alex M Jaeger, Elisa Cabiscol, Spencer U McKinstry, Argenia Doss, Alejandro Aballay, Donald C Lo, Sergey S Akimov, Christopher A Ross, Cagla Eroglu, Dennis J Thiele
Huntington's Disease (HD) is a neurodegenerative disease caused by poly-glutamine expansion in the Htt protein, resulting in Htt misfolding and cell death. Expression of the cellular protein folding and pro-survival machinery by heat shock transcription factor 1 (HSF1) ameliorates biochemical and neurobiological defects caused by protein misfolding. We report that HSF1 is degraded in cells and mice expressing mutant Htt, in medium spiny neurons derived from human HD iPSCs and in brain samples from patients with HD...
February 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/28193519/thiamine-deficiency-induces-endoplasmic-reticulum-stress-and-oxidative-stress-in-human-neurons-derived-from-induced-pluripotent-stem-cells
#17
Xin Wang, Mei Xu, Jacqueline A Frank, Zun-Ji Ke, Jia Luo
Thiamine (vitamin B1) deficiency (TD) plays a major role in the etiology of Wernicke's encephalopathy (WE) which is a severe neurological disorder. TD induces selective neuronal cell death, neuroinflammation, endoplasmic reticulum (ER) stress and oxidative stress in the brain which are commonly observed in many aging-related neurodegenerative diseases, such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD) and progressive supranuclear palsy (PSP). However, the underlying cellular and molecular mechanisms remain unclear...
February 10, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28192238/molecular-networks-related-to-the-immune-system-and-mitochondria-are-targets-for-the-pesticide-dieldrin-in-the-zebrafish-danio-rerio-central-nervous-system
#18
Andrew M Cowie, Kathleena I Sarty, Angella Mercer, Jin Koh, Karen A Kidd, Christopher J Martyniuk
: The objectives of this study were to determine the behavioral and molecular responses in the adult zebrafish (Danio rerio) central nervous system (CNS) following a dietary exposure to the pesticide dieldrin. Zebrafish were fed pellets spiked with 0.03, 0.15, or 1.8μg/g dieldrin for 21days. Behavioral analysis revealed no difference in exploratory behaviors or those related to anxiety. Transcriptional networks for T-cell aggregation and selection were decreased in expression suggesting an immunosuppressive effect of dieldrin, consistent with other studies investigating organochlorine pesticides...
February 9, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28186670/rab7-may-be-a-novel-therapeutic-target-for-neurologic-diseases-as-a-key-regulator-in-autophagy
#19
REVIEW
Haixia Wen, Lixuan Zhan, Siyuan Chen, Long Long, En Xu
Macroautophagy is an evolutionally conserved membrane trafficking pathway that delivers intracellular materials to lysosomes for degradation and recycling. Rab7, as a member of the Rab GTPase superfamily, has a unique role in the regulation of macroautophagy, especially in modulating autophagy flux. The functional states of Rab7 generally switch between GTP-bound and GDP-bound states under the control of guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Activated GTP-Rab7 is capable of regulating autophagosome formation, autophagosome transportation along microtubules, endosome and autophagosome maturation, as well as lysosome biogenesis via interacting with its effector molecules...
February 10, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28184209/theory-of-mind-is-impaired-in-mild-to-moderate-huntington-s-disease-independently-from-global-cognitive-functioning
#20
Giovanna Lagravinese, Laura Avanzino, Alessia Raffo De Ferrari, Roberta Marchese, Carlo Serrati, Paola Mandich, Giovanni Abbruzzese, Elisa Pelosin
Affective "Theory of Mind" (ToM) is the specific ability to represent own and others' emotional states and feelings. Previous studies examined affective ToM ability in patients with Huntington's disease (HD), using the "Reading the Mind in the Eyes test" (RMET). Results were consistent in showing difficulties in inferring complex mental states from photographs of people even in the early stage of HD. However, there has been no agreement as to whether or not cognitive impairments in HD population might have contributed to poor performance on the RMET test...
2017: Frontiers in Psychology
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