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Journal of Neurogenetics

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https://www.readbyqxmd.com/read/28508690/gene-polymorphisms-associated-with-temperament
#1
Xiaoyan Qiu, Graeme B Martin, Dominique Blache
When individuals are exposed to stressful environmental challenges, the response varies widely in one or more of three components: psychology, behavior and physiology. This variability among individuals can be defined as temperament. In recent years, an increasing large body of evidence suggests that the dimensions of temperament, as well as personality, psychological disorders and behavioral traits, are influenced by genetic factors, and much of the variation appears to involve variation in genes or gene polymorphisms in the hypothalamic-pituitary-adrenocortical (HPA) axis and the behavior-controlling neurotransmitter networks...
May 16, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28502191/a-novel-mutation-in-als2-associated-with-severe-and-progressive-infantile-onset-of-spastic-paralysis
#2
Huma Tariq, Shahid Mukhtar, Sadaf Naz
Infantile onset ascending spastic paralysis (IAHSP) is a type of recessively inherited spastic paraplegia. We investigated the clinical and genetic cause of a recessively inherited disorder in two siblings manifesting severe spasticity in the lower limbs which hindered their gait. A novel homozygous nonsense mutation c.1918 C > T (p.Arg640*) was identified after whole-exome sequencing within ALS2 in the DNA of both patients. The obligate carriers were heterozygous for the mutation and other unaffected members were homozygous for the wild type allele...
May 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28460589/expanding-the-phenotypic-spectrum-of-gabrg2-variants-a-recurrent-gabrg2-missense-variant-associated-with-a-severe-phenotype
#3
Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D Picker, Sharyn Lincoln, David A Sweetser, Lauren C Briere, Chellamani Harini, Eric Marsh, Livija Medne, Raymond Y Wang, Karen Leydiker, Andrew Mower, Gepke Visser, Inge Cuppen, Koen L van Gassen, Jasper van der Smagt, Adeel Yousaf, Michael Tennison, Anita Shanmugham, Elizabeth Butler, Gabriele Richard, Dianalee McKnight
Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants...
May 2, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28316265/drift-diffusion-model-of-reward-and-punishment-learning-in-rare-alpha-synuclein-gene-carriers
#4
Ahmed A Moustafa, Szabolcs Kéri, Bertalan Polner, Corey White
To understand the cognitive effects of alpha-synuclein polymorphism, we employed a drift diffusion model (DDM) to analyze reward- and punishment-guided probabilistic learning task data of participants with the rare alpha-synuclein gene duplication and age- and education-matched controls. Overall, the DDM analysis showed that, relative to controls, asymptomatic alpha-synuclein gene duplication carriers had significantly increased learning from negative feedback, while they tended to show impaired learning from positive feedback...
March 20, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28019127/astroglial-transcriptome-dysregulation-in-early-disease-of-an-als-mutant-sod1-mouse-model
#5
Sean J Miller, Ping-Wu Zhang, Jenna Glatzer, Jeffrey D Rothstein
Astroglia are a morphologically diverse and highly abundant cell type in the CNS. Despite these obvious observations, astroglia still remain largely uncharacterized at the cellular and molecular level. In disease contexts such as amyotrophic lateral sclerosis (ALS), it has been widely shown that astroglia downregulate crucial physiological functions, become hypertrophied, reactive, and toxic to motor neurons. However, little is known about the astroglia-specific transcriptomic changes that occur during ALS disease progression, especially early in disease...
December 25, 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27981875/three-dimensional-imaging-of-drosophila-motor-synapses-reveals-ultrastructural-organizational-patterns
#6
Hong Zhan, Joseph Bruckner, Ziheng Zhang, Kate O'Connor-Giles
We combined cryo-preservation of intact Drosophila larvae and electron tomography with comprehensive segmentation of key features to reconstruct the complete ultrastructure of a model glutamatergic synapse in a near-to-native state. Presynaptically, we detail a complex network of filaments that connects and organizes synaptic vesicles. We link the complexity of this synaptic vesicle network to proximity to the active zone cytomatrix, consistent with the model that these protein structures function together to regulate synaptic vesicle pools...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27981874/a-tribute-to-barry-ganetzky-a-trainee-s-perspective-from-1986-1992
#7
Gail A Robertson
No abstract text is available yet for this article.
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27897078/photo-gallery-for-the-special-issue-in-honor-of-barry-ganetzky
#8
Atsushi Ueda, Tim Patience, Chun-Fang Wu
No abstract text is available yet for this article.
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27868467/k-channel-reorganization-and-homeostatic-plasticity-during-postembryonic-development-biophysical-and-genetic-analyses-in-acutely-dissociated-drosophila-central-neurons
#9
Taixiang Saur, I-Feng Peng, Peng Jiang, Neng Gong, Wei-Dong Yao, Tian-Le Xu, Chun-Fang Wu
Intrinsic electric activities of neurons play important roles in establishing and refining neural circuits during development. However, how the underlying ionic currents undergo postembryonic reorganizations remains largely unknown. Using acutely dissociated neurons from larval, pupal, and adult Drosophila brains, we show drastic re-assemblies and compensatory regulations of voltage-gated (IKv) and Ca(2+)-activated (IK(Ca)) K(+ )currents during postembryonic development. Larval and adult neurons displayed prominent fast-inactivating IKv, mediated by the Shaker (Sh) channel to a large extent, while in the same neurons IK(Ca) was far smaller in amplitude...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27868460/the-neurogenetics-of-drosophila-the-ganetzky-legacy
#10
Kate M O'Connor-Giles, Bing Zhang, Julie H Simpson, Chun-Fang Wu
No abstract text is available yet for this article.
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27868457/the-hillary-climber-trumps-manual-testing-an-automatic-system-for-studying-drosophila-climbing
#11
Alex M Willenbrink, Margo K Gronauer, Leon F Toebben, Daniel R Kick, Madalyn Wells, Bing Zhang
Climbing or negative geotaxis is an innate behavior of the fruit fly Drosophila melanogaster. There has been considerable interest in using this simple behavior to gain insights into the changes in brain function associated with aging, influence of drugs, mutated genes, and human neurological disorders. At present, most climbing tests are conducted manually and there is a lack of a simple and automatic device for repeatable and quantitative analysis of fly climbing behavior. Here we present an automatic fly climbing system, named the Hillary Climber (after Sir Edmund Hillary), that can replace the human manual tapping of vials with a mechanical tapping mechanism to provide more consistent force and reduce variability between the users and trials...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27868454/the-atp-sensitive-k-channel-is-seizure-protective-and-required-for-effective-dietary-therapy-in-a-model-of-mitochondrial-encephalomyopathy
#12
Keri J Fogle, J Ian Hertzler, Joy H Shon, Michael J Palladino
Effective therapies are lacking for mitochondrial encephalomyopathies (MEs). MEs are devastating diseases that predominantly affect the energy-demanding tissues of the nervous system and muscle, causing symptoms such as seizures, cardiomyopathy, and neuro- and muscular degeneration. Even common anti-epileptic drugs which are frequently successful in ameliorating seizures in other diseases tend to have a lower success rate in ME, highlighting the need for novel drug targets, especially those that may couple metabolic sensitivity to neuronal excitability...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27846759/rationally-subdividing-the-fly-nervous-system-with-versatile-expression-reagents
#13
J H Simpson
The ability to image and manipulate specific cell populations in Drosophila enables the investigation of how neural circuits develop and coordinate appropriate motor behaviors. Gal4 lines give genetic access to many types of neurons, but the expression patterns of these reagents are often complex. Here, we present the generation and expression patterns of LexA lines based on the vesicular neurotransmitter transporters and Hox transcription factors. Intersections between these LexA lines and existing Gal4 collections provide a strategy for rationally subdividing complex expression patterns based on neurotransmitter or segmental identity...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27845603/effects-of-light-regime-and-substrain-on-behavioral-profiles-of-male-c57bl-6-mice-in-three-tests-of-unconditioned-anxiety
#14
Maaike Labots, Xiaochu Zheng, Golnaz Moattari, Frauke Ohl, Hein A van Lith
Substrains of the C57BL/6 inbred mouse are widely used in genetic, behavioral and physiological research, as well as models for human disease. Throughout, the choice of the respective substrain can have a large influence on experimental results. Likewise, the conditions under which experiments are performed, such as the light regime, can significantly affect the outcome of an experiment, especially when aiming at experimental behavior. Here, two commonly used mouse substrains, C57BL/6JOlaHsd and C57BL/6NCrl, were housed under either a conventional or a reverse light regime and were tested in either the light phase or the dark phase, respectively...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27845601/immediate-early-alcohol-responsive-mirna-expression-in-drosophila
#15
Alfredo Ghezzi, Marie Zomeno, Andrzej Z Pietrzykowski, Nigel S Atkinson
At the core of the changes characteristic of alcoholism are alterations in gene expression in the brain of the addicted individual. These changes are believed to underlie some of the neuroadaptations that promote compulsive drinking. Unfortunately, the mechanisms by which alcohol consumption produces changes in gene expression remain poorly understood. MicroRNAs (miRNAs) have emerged as important regulators of gene expression because they can coordinately modulate the translation efficiency of large sets of specific mRNAs...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27830591/one-plus-one-makes-more-than-two
#16
Alberto Ferrús
Pleasant memories rejuvenate and this letter is written to that purpose. Although dedicated to Barry Ganetzky, I hope it will please also those that shared their times with us in the lab of Seymour Benzer. For those too young to have so distant memories, I hope this text will teach them the same lessons we learnt then.
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27802784/ion-channels-as-insecticide-targets
#17
Richard H Ffrench-Constant, Martin S Williamson, T G Emyr Davies, Chris Bass
Ion channels remain the primary target of most of the small molecule insecticides. This review examines how the subunit composition of heterologously expressed receptors determines their insecticide-specific pharmacology and how the pharmacology of expressed receptors differs from those found in the insect nervous system. We find that the insecticide-specific pharmacology of some receptors, like that containing subunits of the Rdl encoded GABA receptor, can be reconstituted with very few of the naturally occurring subunits expressed...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27785950/kinase-mediated-signaling-cascades-in-mood-disorders-and-antidepressant-treatment
#18
Li-Lian Yuan, Eric Wauson, Vanja Duric
Kinase-mediated signaling cascades regulate a number of different molecular mechanisms involved in cellular homeostasis, and are viewed as one of the most common intracellular processes that are robustly dysregulated in the pathophysiology of mood disorders such as depression. Newly emerged, rapid acting antidepressants are able to achieve therapeutic improvement, possibly in part, through stimulating activity of kinase-dependent signaling pathways. Thus, advancements in our understanding of how kinases may contribute to development and treatment of depression seem crucial...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27776463/a-novel-de-novo-mutation-in-the-tsc2-gene-in-a-chinese-patient-with-tuberous-sclerosis-complex
#19
Wenzao Li, Peng Zhou, Congmin Zhao, Yuping Zhang
Tuberous sclerosis complex (TSC), a multisystem genetic syndrome, often affects the central nervous system. The age of onset of TSC ranges from 0 to 15 years. The clinical features manifest as a combination of seizures, mental retardation, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma. Most cases of TSC are caused by mutations of the TSC1 or TSC2 genes. We characterized a Chinese patient with a novel de novo mutation in the TSC2 gene associated with the TSC detected by next-generation sequencing...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27696930/dopamine-drd2-polymorphism-drd2-annk1-taq1a-is-not-a-significant-risk-factor-in-writer-s-cramp
#20
Kirsten E Zeuner, Albert Acewicz, Arne Knutzen, Dirk Dressler, Katja Lohmann, Karsten Witt
Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A polymorphism (rs1800497). This study addresses the question of whether the DRD2/ANKK1-Taq1A polymorphism is a risk factor for writer's cramp. We determined the DRD2/ANKK1-Taq1A polymorphism 34 patients with writer's cramp compared to 67 age matched controls...
September 2016: Journal of Neurogenetics
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