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Journal of Neurogenetics

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https://read.qxmd.com/read/30747022/high-diagnostic-yield-and-novel-variants-in-very-late-onset-spasticity
#1
Momen Almomen, Kristina Martens, Asfia Quadir, Carly Sabine Pontifex, Alexandra Hanson, Lawrence Korngut, Gerald Pfeffer
Hereditary spastic paraplegias (HSPs) are a diverse group of genetic conditions with variable severity and onset age. From a neurogenetic clinic, we identified 14 patients with very late-onset HSP, with symptoms starting after the age of 35. In this cohort, sequencing of known genetic causes was performed using clinically available HSP sequencing panels. We identified 4 patients with mutations in SPG7 and 3 patients with SPAST mutations, representing 50% of the cohort and indicating a very high diagnostic yield...
February 12, 2019: Journal of Neurogenetics
https://read.qxmd.com/read/30724684/the-desaturase1-gene-affects-reproduction-before-during-and-after-copulation-in-drosophila-melanogaster
#2
Tetsuya Nojima, Isabelle Chauvel, Benjamin Houot, François Bousquet, Jean-Pierre Farine, Claude Everaerts, Daisuke Yamamoto, Jean-François Ferveur
Desaturase1 (desat1) is one of the few genes known to be involved in the two complementary aspects of sensory communication - signal emission and signal reception - in Drosophila melanogaster. In particular, desat1 is necessary for the biosynthesis of major cuticular pheromones in both males and females. It is also involved in the male ability to discriminate sex pheromones. Each of these two sensory communication aspects depends on distinct desat1 putative regulatory regions. Here, we used (i) mutant alleles resulting from the insertion/excision of a transposable genomic element inserted in a desat1 regulatory region, and (ii) transgenics made with desat1 regulatory regions used to target desat1 RNAi...
February 6, 2019: Journal of Neurogenetics
https://read.qxmd.com/read/30724636/the-utility-of-whole-exome-sequencing-in-diagnosing-neurological-disorders-in-adults-from-a-highly-consanguineous-population
#3
Weiyi Mu, Nicoline Schiess, Jennifer L Orthmann-Murphy, Ayman W El-Hattab
There is increasing evidence that whole exome sequencing (WES) has a high diagnostic yield and is cost-efficient for individuals with neurological phenotypes. However, there is limited data on the use of WES in non-Western populations, including populations with a high rate of consanguinity. Retrospective chart review was performed on 24 adults with undiagnosed neurological symptoms evaluated in genetics and neurology clinics in a tertiary care facility on the Arabian Peninsula, and had WES between 2014 and 2016...
February 6, 2019: Journal of Neurogenetics
https://read.qxmd.com/read/30686090/foxo-regulates-cell-fate-specification-of-drosophila-ventral-olfactory-projection-neurons
#4
Jia-Yi Wei, Pei-Chi Chung, Sao-Yu Chu, Hung-Hsiang Yu
Diverse types of neurons must be specified in the developing brain to form the functional neural circuits that are necessary for the execution of daily tasks. Here, we describe the participation of Forkhead box class O (FOXO) in cell fate specification of a small subset of Drosophila ventral olfactory projection neurons (vPNs). Using the two-color labeling system, twin-spot MARCM, we determined the temporal birth order of each vPN type, and this characterization served as a foundation to investigate regulators of cell fate specification...
January 27, 2019: Journal of Neurogenetics
https://read.qxmd.com/read/30516420/high-fat-diet-withdrawal-modifies-alcohol-preference-and-transcription-of-dopaminergic-and-gabaergic-receptors
#5
Luana Martins de Carvalho, Juliana Lauar Gonçalves, Agatha Sondertoft Braga Pedersen, Samara Damasceno, Renato Elias Moreira Júnior, Tatiani Uceli Maioli, Ana Maria Caetano de Faria, Ana Lúcia Brunialti Godard
The bidirectional and positive relation between the ingestion of fat and alcohol has become the subject of extensive discussion. However, this relation is more studied in animal models of binge eating with intermittent access of high-fat diet or in a model of short period of this diet consumption. Here, we developed a model to elucidate how chronic high-fat diet and its withdrawal influence alcohol intake (two-bottle choice) and anxiety behavior (marble burying test). In the first experimental stage, animals were fed on standard (AIN93G) or high sugar and butter (HSB) diet for 8 weeks...
December 5, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30489172/genetic-analysis-of-killerred-in-c-elegans-identifies-a-shared-role-of-calcium-genes-in-ros-mediated-neurodegeneration
#6
Lyndsay E A Young, Chelsea Shoben, Kyra Ricci, Daniel C Williams
In C. elegans, neurodegeneration induced by excitotoxicity or aggregation of misfolded proteins is dependent on genes involved in calcium release from the endoplasmic reticulum. Reactive oxygen species (ROS) can also induce neurodegeneration, but the relationship between ROS-mediated neurodegeneration and calcium has not been established. We activated KillerRed in the GABA neurons of C. elegans to produce ROS that leads to functional loss and structural degeneration of these neurons and demonstrated that the severity of neurodegeneration was dependent on extent of KillerRed activation...
November 29, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30457022/a-novel-sex-difference-in-drosophila-contact-chemosensory-neurons-unveiled-using-single-cell-labeling
#7
Ken-Ichi Kimura, Akira Urushizaki, Chiaki Sato, Daisuke Yamamoto
Among the sensory modalities involved in controlling mating behavior in Drosophila melanogaster, contact sex pheromones play a primary role. The key receptor neurons for contact sex pheromones are located on the forelegs, which are activated in males upon touching the female abdomen during tapping events in courtship actions. A fruitless (fru)-positive (fru [+]) male-pheromone sensing cell (M-cell) and a fru [+] female-pheromone sensing cell (F-cell) are paired in a sensory bristle on the legs, and some fru [+] chemoreceptor axons project across the midline in the thoracic neuromere in males but not in females...
November 20, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30398075/cortical-astroglia-undergo-transcriptomic-dysregulation-in-the-g93a-sod1-als-mouse-model
#8
Sean J Miller, Jenna C Glatzer, Yi-Chun Hsieh, Jeffrey D Rothstein
Astroglia are the most abundant glia cell in the central nervous system, playing essential roles in maintaining homeostasis. Key functions of astroglia include, but are not limited to, neurotransmitter recycling, ion buffering, immune modulation, neurotrophin secretion, neuronal synaptogenesis and elimination, and blood-brain barrier maintenance. In neurological diseases, it is well appreciated that astroglia play crucial roles in the disease pathogenesis. In amyotrophic lateral sclerosis (ALS), a motor neuron degenerative disease, astroglia in the spinal cord and cortex downregulate essential transporters, among other proteins, that exacerbate disease progression...
November 6, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30303434/modulation-of-neuromuscular-synapses-and-contraction-in-drosophila-3rd-instar-larvae
#9
Kiel G Ormerod, JaeHwan Jung, A Joffre Mercier
Over the past four decades, Drosophila melanogaster has become an increasingly important model system for studying the modulation of chemical synapses and muscle contraction by cotransmitters and neurohormones. This review describes how advantages provided by Drosophila have been utilized to investigate synaptic modulation, and it discusses key findings from investigations of cotransmitters and neurohormones that act on body wall muscles of 3rd instar Drosophila larvae. These studies have contributed much to our understanding of how neuromuscular systems are modulated by neuropeptides and biogenic amines, but there are still gaps in relating these peripheral modulatory effects to behavior...
October 10, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30303422/a-look-inside-the-atwood-lab
#10
Jeffrey S Dason, Marianne Hegström-Wojtowicz, Marla B Sokolowski
No abstract text is available yet for this article.
October 10, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30247086/unravelling-the-genetic-architecture-of-autosomal-recessive-epilepsy-in-the-genomic-era
#11
Jeffrey D Calhoun, Gemma L Carvill
The technological advancement of next-generation sequencing has greatly accelerated the pace of variant discovery in epilepsy. Despite an initial focus on autosomal dominant epilepsy due to the tractable nature of variant discovery with trios under a de novo model, more and more variants are being reported in families with epilepsies consistent with autosomal recessive (AR) inheritance. In this review, we touch on the classical AR epilepsy variants such as the inborn errors of metabolism and malformations of cortical development...
September 24, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30231794/antennae-sense-heat-stress-to-inhibit-mating-and-promote-escaping-in-drosophila-females
#12
Yusuke Miwa, Masayuki Koganezawa, Daisuke Yamamoto
Environmental stress is a major factor that affects courtship behavior and evolutionary fitness. Although mature virgin females of Drosophila melanogaster usually accept a courting male to mate, they may not mate under stressful conditions. Above the temperature optimal for mating (20-25 °C), copulation success of D. melanogaster declines with increasing temperature although we observed vigorous courtship attempts by males, and no copulation takes place at temperatures over 36 °C. We attempted to identify the sensory pathway for detecting heat threat that drives a female to escape rather than to engage in mating that detects hot temperature and suppresses courtship behavior...
September 19, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30204029/zebrafish-expression-reporters-and-mutants-reveal-that-the-igsf-cell-adhesion-molecule-dscamb-is-required-for-feeding-and-survival
#13
Donald P Julien, Alex W Chan, Joshua Barrios, Jaffna Mathiaparanam, Adam Douglass, Marc A Wolman, Alvaro Sagasti
Down syndrome cell adhesion molecules (DSCAMs) are broadly expressed in nervous systems and play conserved roles in programmed cell death, neuronal migration, axon guidance, neurite branching and spacing, and synaptic targeting. However, DSCAMs appear to have distinct functions in different vertebrate animals, and little is known about their functions outside the retina. We leveraged the genetic tractability and optical accessibility of larval zebrafish to investigate the expression and function of a DSCAM family member, dscamb...
September 11, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30182765/fifty-years-my-mentor-harold-atwood
#14
Milton P Charlton
While readers of Journal of Neurogenetics may be familiar with Harold Atwood's work with Drosophila, most may know little of his previous work on crustacean neuromuscular systems that prepared him to utilise Drosophila neuromuscular junctions. Here, I will give brief overviews of his academic career, one line of his research that persisted throughout his career and his entry to the Drosophila field. This is not a review paper. Finally, I will relate my experiences with Atwood since 1967 as an undergraduate, Postdoctoral Fellow, and Faculty member and finish with some personal anecdotal observations...
September 5, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30175671/type-ii-phosphatidylinositol-4-kinase-regulates-nerve-terminal-growth-and-synaptic-vesicle-recycling
#15
Kristyn C Cantarutti, Jason Burgess, Julie A Brill, Jeffrey S Dason
Type II phosphatidylinositol 4-kinase (PI4KII) is thought to be associated with synaptic vesicles (SVs) and to be responsible for the majority of PI4K activity in the nervous system. However, the function of PI4KII at the synapse is unknown. We characterized the synaptic phenotypes of a Drosophila melanogaster PI4KII null mutant. We found increased nerve terminal growth in PI4KII null mutants indicating that PI4KII restrains nerve terminal growth. Evoked neurotransmitter release elicited in response to low frequency stimulation and spontaneous neurotransmitter release were not altered in PI4KII null mutants...
September 3, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30175650/noradrenergic-gating-of-long-lasting-synaptic-potentiation-in-the-hippocampus-from-neurobiology-to-translational-biomedicine
#16
Peter V Nguyen, Jennifer N Gelinas
Altered synaptic strength underlies information storage in neural circuits. Neuromodulatory transmitters such as norepinephrine (NE) facilitate long-lasting synaptic plasticity by recruiting and modifying multiple molecular elements of synaptic signaling, including specific transmitter receptors, intracellular protein kinases, and translation initiation. NE regulates multiple brain functions such as attention, perception, arousal, sleep, learning, and memory. The mammalian hippocampus receives noradrenergic innervation and hippocampal neurons express β-adrenergic receptors (β-ARs), which bind NE and are critical for gating the induction of long-lasting forms of synaptic potentiation...
September 3, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30175644/parvalbumin-expression-affects-synaptic-development-and-physiology-at-the-drosophila-larval-nmj
#17
Tao He, Michael N Nitabach, Gregory A Lnenicka
Presynaptic Ca2+ appears to play multiple roles in synaptic development and physiology. We examined the effect of buffering presynaptic Ca2+ by expressing parvalbumin (PV) in Drosophila neurons, which do not normally express PV. The studies were performed on the identified Ib terminal that innervates muscle fiber 5. The volume-averaged, residual Ca2+ resulting from single action potentials (APs) and AP trains was measured using the fluorescent Ca2+ indicator, OGB-1. PV reduced the amplitude and decay time constant (τ) for single-AP Ca2+ transients...
September 3, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30175640/postsynaptic-syntaxin-4-negatively-regulates-the-efficiency-of-neurotransmitter-release
#18
Kathryn P Harris, J Troy Littleton, Bryan A Stewart
Signaling from the postsynaptic compartment regulates multiple aspects of synaptic development and function. Syntaxin 4 (Syx4) is a plasma membrane t-SNARE that promotes the growth and plasticity of Drosophila neuromuscular junctions (NMJs) by regulating the localization of key synaptic proteins in the postsynaptic compartment. Here, we describe electrophysiological analyses and report that loss of Syx4 leads to enhanced neurotransmitter release, despite a decrease in the number of active zones. We describe a requirement for postsynaptic Syx4 in regulating several presynaptic parameters, including Ca2+ cooperativity and the abundance of the presynaptic calcium channel Cacophony (Cac) at active zones...
September 3, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30175639/the-application-of-kisser-probes-for-resolving-the-distribution-and-microenvironment-of-membrane-proteins-in-situ
#19
Michal Stawarski, Karlis Anthony Justs, Roberto Xander Hernandez, Gregory Talisker Macleod
Membrane proteins play a lead role in the formation and function of synapses, but, despite revolutions in immunology and molecular genetics, limitations persist in our ability to investigate membrane proteins in the context of an intact synapse. Here, we introduce a simple but novel approach to resolving the distribution of endogenous membrane proteins in either live or fixed tissues. The technique involves transgenic expression of a protein with an extracellular tag, a generic transmembrane domain, and an intracellular terminus that mimics the intracellular anchoring motifs of the endogenous protein of interest...
September 3, 2018: Journal of Neurogenetics
https://read.qxmd.com/read/30484392/child-harold
#20
Marla B Sokolowski
No abstract text is available yet for this article.
September 2018: Journal of Neurogenetics
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