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https://www.readbyqxmd.com/read/28729730/a-selective-inhibitor-of-histone-deacetylase-3-prevents-cognitive-deficits-and-suppresses-striatal-cag-repeat-expansions-in-huntington-s-disease-mice
#1
Nuria Suelves, Lucy Kirkham-McCarthy, Robert S Lahue, Silvia Ginés
Huntington's disease (HD) is a neurodegenerative disorder whose major symptoms include progressive motor and cognitive dysfunction. Cognitive decline is a critical quality of life concern for HD patients and families. The enzyme histone deacetylase 3 (HDAC3) appears to be important in HD pathology by negatively regulating genes involved in cognitive functions. Furthermore, HDAC3 has been implicated in the aberrant transcriptional patterns that help cause disease symptoms in HD mice. HDAC3 also helps fuel CAG repeat expansions in human cells, suggesting that HDAC3 may power striatal expansions in the HTT gene thought to drive disease progression...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715425/elimination-of-huntingtin-in-the-adult-mouse-leads-to-progressive-behavioral-deficits-bilateral-thalamic-calcification-and-altered-brain-iron-homeostasis
#2
Paula Dietrich, Irudayam Maria Johnson, Shanta Alli, Ioannis Dragatsis
Huntington's Disease (HD) is an autosomal dominant progressive neurodegenerative disorder characterized by cognitive, behavioral and motor dysfunctions. HD is caused by a CAG repeat expansion in exon 1 of the HD gene that is translated into an expanded polyglutamine tract in the encoded protein, huntingtin (HTT). While the most significant neuropathology of HD occurs in the striatum, other brain regions are also affected and play an important role in HD pathology. To date there is no cure for HD, and recently strategies aiming at silencing HTT expression have been initiated as possible therapeutics for HD...
July 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28712263/effects-of-colostrum-serum-on-the-serotonergic-system-in-the-dorsal-raphe-nuclei-of-exercised-rats
#3
Tae-Woon Kim, Chang-Ju Kim, Jinhee Seo
PURPOSE: The central fatigue hypothesis suggests that exhaustion, or the maximum level of exercise, induces excessive stress and increases serotonin concentrations in the brain, which in turn decreases central nervous system (CNS) function and induces fatigue. Our aim was to determine the effects of colostrum serum on the serotonergic system in the dorsal raphe nuclei during exhaustive exercise. METHODS: Animals were randomly divided into five groups: control, exercise, exercise and treatment with 50, 100, and 200 mg/kg of colostrum serum...
March 31, 2017: Journal of Exercise Nutrition & Biochemistry
https://www.readbyqxmd.com/read/28700716/improved-high-sensitivity-screen-for-huntington-disease-using-a-one-step-triplet-primed-pcr-and-melting-curve-assay
#4
Mingjue Zhao, Felicia S H Cheah, Min Chen, Caroline G Lee, Hai-Yang Law, Samuel S Chong
Molecular diagnosis of Huntington disease (HD) is currently performed by fluorescent repeat-flanking or triplet-primed PCR (TP-PCR) with capillary electrophoresis (CE). However, CE requires multiple post-PCR steps and may result in high cost in high-throughput settings. We previously described a cost-effective single-step molecular screening strategy employing the use of melting curve analysis (MCA). However, because it relies on repeat-flanking PCR, its efficiency in detecting expansion mutations decreases with increasing size of the repeat, which could lead to false-negative results...
2017: PloS One
https://www.readbyqxmd.com/read/28698602/polyglutamine-expansion-affects-huntingtin-conformation-in-multiple-huntington-s-disease-models
#5
Manuel Daldin, Valentina Fodale, Cristina Cariulo, Lucia Azzollini, Margherita Verani, Paola Martufi, Maria Carolina Spiezia, Sean M Deguire, Marta Cherubini, Douglas Macdonald, Andreas Weiss, Alberto Bresciani, Jean-Paul Gerard Vonsattel, Lara Petricca, J Lawrence Marsh, Silvia Gines, Iolanda Santimone, Massimo Marano, Hilal A Lashuel, Ferdinando Squitieri, Andrea Caricasole
Conformational changes in disease-associated or mutant proteins represent a key pathological aspect of Huntington's disease (HD) and other protein misfolding diseases. Using immunoassays and biophysical approaches, we and others have recently reported that polyglutamine expansion in purified or recombinantly expressed huntingtin (HTT) proteins affects their conformational properties in a manner dependent on both polyglutamine repeat length and temperature but independent of HTT protein fragment length. These findings are consistent with the HD mutation affecting structural aspects of the amino-terminal region of the protein, and support the concept that modulating mutant HTT conformation might provide novel therapeutic and diagnostic opportunities...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28688038/dadd1-and-dxnp-prevent-genome-instability-by-maintaining-hp1a-localization-at-drosophila-telomeres
#6
Joselyn Chavez, Juan Manuel Murillo-Maldonado, Vanessa Bahena, Ana Karina Cruz, América Castañeda-Sortibrán, Rosario Rodriguez-Arnaiz, Mario Zurita, Viviana Valadez-Graham
Telomeres are important contributors to genome stability, as they prevent linear chromosome end degradation and contribute to the avoidance of telomeric fusions. An important component of the telomeres is the heterochromatin protein 1a (HP1a). Mutations in Su(var)205, the gene encoding HP1a in Drosophila, result in telomeric fusions, retrotransposon regulation loss and larger telomeres, leading to chromosome instability. Previously, it was found that several proteins physically interact with HP1a, including dXNP and dAdd1 (orthologues to the mammalian ATRX gene)...
July 7, 2017: Chromosoma
https://www.readbyqxmd.com/read/28675387/serotonin-transporter-gene-promoter-methylation-status-correlates-with-in-vivo-prefrontal-5-htt-availability-and-reward-function-in-human-obesity
#7
M Drabe, M Rullmann, J Luthardt, Y Boettcher, R Regenthal, T Ploetz, G A Becker, M Patt, C Schinke, F T Bergh, F Zientek, A Hilbert, A Bresch, W Fenske, M K Hankir, O Sabri, S Hesse
A polymorphism in the promoter region of the human serotonin transporter (5-HTT)-coding SLC6A4 gene (5-HTTLPR) has been implicated in moderating susceptibility to stress-related psychopathology and to possess regulatory functions on human in vivo 5-HTT availability. However, data on a direct relation between 5-HTTLPR and in vivo 5-HTT availability have been inconsistent. Additional factors such as epigenetic modifications of 5-HTTLPR might contribute to this association. This is of particular interest in the context of obesity, as an association with 5-HTTLPR hypermethylation has previously been reported...
July 4, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28674980/the-complexity-of-clinical-huntington-s-disease-developments-in-molecular-genetics-neuropathology-and-neuroimaging-biomarkers
#8
Lynette J Tippett, Henry J Waldvogel, Russell G Snell, Jean-Paul Vonsattel, Anne B Young, Richard L M Faull
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterised by extensive neuronal loss in the striatum and cerebral cortex, and a triad of clinical symptoms affecting motor, cognitive/behavioural and mood functioning. The mutation causing HD is an expansion of a CAG tract in exon 1 of the HTT gene. This chapter provides a multifaceted overview of the clinical complexity of HD. We explore recent directions in molecular genetics including the identification of loci that are genetic modifiers of HD that could potentially reveal therapeutic targets beyond the HTT gene transcript and protein...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28674491/microglial-activation-in-the-pathogenesis-of-huntington-s-disease
#9
REVIEW
Hui-Ming Yang, Su Yang, Shan-Shan Huang, Bei-Sha Tang, Ji-Feng Guo
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by expanded CAG trinucleotide repeats (>36) in exon 1 of HTT gene that encodes huntingtin protein. Although HD is characterized by a predominant loss of neurons in the striatum and cortex, previous studies point to a critical role of aberrant accumulation of mutant huntingtin in microglia that contributes to the progressive neurodegeneration in HD, through both cell-autonomous and non-cell-autonomous mechanisms...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28670115/the-influence-of-the-serotonergic-system-on-the-personality-and-quality-of-life-of-postmenopausal-women
#10
Daria Schneider-Matyka, Anna Jurczak, Małgorzata Szkup, Agnieszka Samochowiec, Anna Grzywacz, Sylwia Wieder-Huszla, Elżbieta Grochans
The aim of this study was to establish the relationship between personality traits of postmenopausal women and the presence of the 44-bp VNTR polymorphism in the serotonin transporter (5-HTT) (SLC6A4) promoter region and the 30-bp VNTR polymorphism in the MAO-A promoter region. The study's aim was also to determine the influence of personality traits on the quality of postmenopausal women's lives. The study involved 214 postmenopausal women from northwest Poland, with an average age of 56.8±4.08 years. It was performed using the Temperament and Character Inventory-Revised and the Short Form Health Survey...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28662109/phosphorylation-of-the-19s-regulatory-particle-atpase-subunit-rpt6-modifies-susceptibility-to-proteotoxic-stress-and-protein-aggregation
#11
Esther Magdalena Marquez-Lona, Ana Lilia Torres-Machorro, Frankie R Gonzales, Lorraine Pillus, Gentry N Patrick
The ubiquitin proteasome system (UPS) is a highly conserved and tightly regulated biochemical pathway that degrades the majority of proteins in eukaryotic cells. Importantly, the UPS is responsible for counteracting altered protein homeostasis induced by a variety of proteotoxic stresses. We previously reported that Rpt6, the ATPase subunit of the 19S regulatory particle (RP) of the 26S proteasome, is phosphorylated in mammalian neurons at serine 120 in response to neuronal activity. Furthermore, we found that Rpt6 S120 phosphorylation, which regulates the activity and distribution of proteasomes in neurons, is relevant for proteasome-dependent synaptic remodeling and function...
2017: PloS One
https://www.readbyqxmd.com/read/28656686/estimation-of-genetic-risk-function-with-covariates-in-the-presence-of-missing-genotypes
#12
Annie J Lee, Karen Marder, Roy N Alcalay, Helen Mejia-Santana, Avi Orr-Urtreger, Nir Giladi, Susan Bressman, Yuanjia Wang
In genetic epidemiological studies, family history data are collected on relatives of study participants and used to estimate the age-specific risk of disease for individuals who carry a causal mutation. However, a family member's genotype data may not be collected because of the high cost of in-person interview to obtain blood sample or death of a relative. Previously, efficient nonparametric genotype-specific risk estimation in censored mixture data has been proposed without considering covariates. With multiple predictive risk factors available, risk estimation requires a multivariate model to account for additional covariates that may affect disease risk simultaneously...
June 27, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28656683/associations-of-endocrine-stress-related-gene-polymorphisms-with-risk-of-autism-spectrum-disorders-evidence-from-an-integrated-meta-analysis
#13
REVIEW
Ping-Yuan Yang, Ya-Jing Menga, Tao Li, Yi Huang
Autism spectrum disorders (ASD) are related to serotonin transporter (5-HTT) and catechol-O-methyl transferase (COMT) as two most monoaminergic polymorphic variations. However, multiple studies assessing rs4680 and 5-HTTLPR variants in ASD have reported inconsistent results. Therefore, we conducted an integrated meta-analysis to combine case-control and transmission/disequilibrium test (TDT) studies to determine whether COMT and 5-HTT are associated with ASD. We searched multiple electronic databases (PubMed, EmBase and Web of Science) to identify studies assessing the rs4680 and 5-HTTLPR variants in ASD from Jan 1997 to Dec 2016...
June 28, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28653853/post-translational-modifications-ptms-identified-on-endogenous-huntingtin-cluster-within-proteolytic-domains-between-heat-repeats
#14
Tamara Ratovitski, Robert N O'Meally, Mali Jiang, Raghothama Chaerkady, Ekaterine Chighladze, Jacqueline C Stewart, Xiaofang Wang, Nicolas Arbez, Elaine Roby, Athanasios Alexandris, Wenzhen Duan, Ravi Vijayvargia, Ihn Sik Seong, Daniel J Lavery, Robert N Cole, Christopher A Ross
Post-translational modifications (PTMs) of proteins regulate various cellular processes. PTMs of polyglutamine-expanded huntingtin (Htt) protein, which causes Huntington's disease (HD), are likely modulators of HD pathogenesis. Previous studies have identified and characterized several PTMs on exogenously expressed Htt fragments, but none of them were designed to systematically characterize PTMs on the endogenous full-length Htt protein. We found that full-length endogenous Htt, which was immunoprecipitated from HD knock-in mouse and human post-mortem brain, is suitable for detection of PTMs by mass spectrometry...
July 3, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28652746/association-between-serotonin-transporter-polymorphisms-5-httlpr-and-the-madrs-dysphoria-retardation-and-vegetative-subscale-scores-in-the-treatment-of-depression
#15
Hitoshi Takahashi, Hisashi Higuchi, Kazuhiro Sato, Mitsuhiro Kamata, Keizo Yoshida, Katsuji Nishimura
OBJECTIVE: We investigated the association between serotonin- or 5-hydroxytryptamine (5-HT)-related gene polymorphisms and response to antidepressant treatment in a specific symptom cluster of major depression by using the three-factor model of the Montgomery-Åsberg Depression Rating Scale (MADRS), ie, dysphoria (items of sadness, pessimistic thoughts, and suicidal thoughts), retardation (items of lassitude, inability to feel, apparent sadness, and concentration difficulties), and vegetative symptoms (items of reduced sleep, reduced appetite, and inner tension)...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28649967/structural-perturbations-on-huntingtin-n17-domain-during-its-folding-on-2d-nanomaterials
#16
Leili Zhang, Mei Feng, Ruhong Zhou, Binquan Luan
A globular protein's folded structure in its physiological environment is largely determined by its amino acid sequence. Recently, newly discovered transformer proteins as well as intrinsically disordered proteins may adopt the folding-upon-binding mechanism where their secondary structures are highly dependent on their binding partners. Due to the various applications of nanomaterials in biological sensors and potential wearable devices, it is important to discover possible conformational changes of proteins on nanomaterials...
June 26, 2017: Nanotechnology
https://www.readbyqxmd.com/read/28648567/eicosapentaenoic-and-docosahexaenoic-acids-have-different-effects-on-peripheral-phospholipase-a2-gene-expressions-in-acute-depressed-patients
#17
Kuan-Pin Su, Hui-Ting Yang, Jane Pei-Chen Chang, Yin-Hua Shih, Ta-Wei Guu, Satyanarayanan Senthil Kumaran, Piotr Gałecki, Anna Walczewska, Carmine M Pariante
INTRODUCTION: Omega-3 polyunsaturated fatty acids (PUFAs) have been proven critical in the development and management of major depressive disorder (MDD) by a number of epidemiological, clinical and preclinical studies, but the molecular mechanisms underlying this therapeutic action are yet to be understood. Although eicosapentaenoic acid (EPA) seems to be the active component of omega-3 PUFAs' antidepressant effects, the biological research about the difference of specific genetic regulations between EPA and docosahexaenoic acid (DHA), the two main components of omega-3 PUFAs, is still lacking in human subjects...
June 22, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28642124/identification-of-genetic-variants-associated-with-huntington-s-disease-progression-a-genome-wide-association-study
#18
Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi
BACKGROUND: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. METHODS: We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11)...
June 20, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28639241/huntington-s-disease-and-mitochondria
#19
REVIEW
Mohammad Jodeiri Farshbaf, Kamran Ghaedi
Huntington's disease (HD) as an inherited neurodegenerative disorder leads to neuronal loss in striatum. Progressive motor dysfunction, cognitive decline, and psychiatric disturbance are the main clinical symptoms of the HD. This disease is caused by expansion of the CAG repeats in exon 1 of the huntingtin which encodes Huntingtin protein (Htt). Various cellular and molecular events play role in the pathology of HD. Mitochondria as important organelles play crucial roles in the most of neurodegenerative disorders like HD...
June 21, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28638078/the-stress-response-factor-daf-16-foxo-is-required-for-multiple-compound-families-to-prolong-the-function-of-neurons-with-huntington-s-disease
#20
Francesca Farina, Emmanuel Lambert, Lucie Commeau, François-Xavier Lejeune, Nathalie Roudier, Cosima Fonte, J Alex Parker, Jacques Boddaert, Marc Verny, Etienne-Emile Baulieu, Christian Neri
Helping neurons to compensate for proteotoxic stress and maintain function over time (neuronal compensation) has therapeutic potential in aging and neurodegenerative disease. The stress response factor FOXO3 is neuroprotective in models of Huntington's disease (HD), Parkinson's disease and motor-neuron diseases. Neuroprotective compounds acting in a FOXO-dependent manner could thus constitute bona fide drugs for promoting neuronal compensation. However, whether FOXO-dependent neuroprotection is a common feature of several compound families remains unknown...
June 21, 2017: Scientific Reports
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