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neuromuscular junction physiology

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https://www.readbyqxmd.com/read/29125502/congenital-myasthenic-syndromes-or%C3%A2-inherited-disorders-of-neuromuscular-transmission-recent-discoveries-and%C3%A2-open%C3%A2-questions
#1
Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché, Bruno Eymard, Hanns Lochmüller, Clarke Slater
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29117754/generation-and-characterization-of-new-alleles-of-quiver-qvr-that-encodes-an-extracellular-modulator-of-the-shaker-potassium-channel
#2
Hongyu Ruan, Atsushi Ueda, Xiaomin Xing, Xuxuan Wan, Benjamin Strub, Spencer Mukai, Kaan Certel, David Green, Kyle Belozerov, Wei-Dong Yao, Wayne Johnson, Jim Jung-Ching Lin, Arthur J Hilliker, Chun-Fang Wu
Our earlier genetic screen uncovered a paraquat-sensitive leg-shaking mutant quiver(1) (qvr(1)), whose gene product interacts with the Shaker (Sh) K(+) channel. We also mapped the qvr locus to EY04063 and noticed altered day-night activity patterns in these mutants. Such circadian behavioral defects were independently reported by another group, who employed the qvr(1) allele we supplied them, and attributed the extreme restless phenotype of EY04063 to the qvr gene. However, their report adopted a new noncanonical gene name sleepless (sss) for qvr...
November 9, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29104532/specific-physical-exercise-improves-energetic-metabolism-in-the-skeletal-muscle-of-amyotrophic-lateral-sclerosis-mice
#3
Céline Desseille, Séverine Deforges, Olivier Biondi, Léo Houdebine, Domenico D'amico, Antonin Lamazière, Cédric Caradeuc, Gildas Bertho, Gaëlle Bruneteau, Laure Weill, Jean Bastin, Fatima Djouadi, François Salachas, Philippe Lopes, Christophe Chanoine, Charbel Massaad, Frédéric Charbonnier
Amyotrophic Lateral Sclerosis is an adult-onset neurodegenerative disease characterized by the specific loss of motor neurons, leading to muscle paralysis and death. Although the cellular mechanisms underlying amyotrophic lateral sclerosis (ALS)-induced toxicity for motor neurons remain poorly understood, growing evidence suggest a defective energetic metabolism in skeletal muscles participating in ALS-induced motor neuron death ultimately destabilizing neuromuscular junctions. In the present study, we report that a specific exercise paradigm, based on a high intensity and amplitude swimming exercise, significantly improves glucose metabolism in ALS mice...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29078798/proteomic-profiling-of-neuronal-mitochondria-reveals-modulators-of-synaptic-architecture
#4
Laura C Graham, Samantha L Eaton, Paula J Brunton, Abdelmadjid Atrih, Colin Smith, Douglas J Lamont, Thomas H Gillingwater, Giuseppa Pennetta, Paul Skehel, Thomas M Wishart
BACKGROUND: Neurons are highly polarized cells consisting of three distinct functional domains: the cell body (and associated dendrites), the axon and the synapse. Previously, it was believed that the clinical phenotypes of neurodegenerative diseases were caused by the loss of entire neurons, however it has recently become apparent that these neuronal sub-compartments can degenerate independently, with synapses being particularly vulnerable to a broad range of stimuli. Whilst the properties governing the differential degenerative mechanisms remain unknown, mitochondria consistently appear in the literature, suggesting these somewhat promiscuous organelles may play a role in affecting synaptic stability...
October 27, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29068540/the-molecular-cross-talk-of-the-dystrophin-glycoprotein-complex
#5
REVIEW
Marta Gawor, Tomasz J Prószyński
The proper function of skeletal muscles relies on their ability to process signals derived from motor neurons, transmit stimuli along the muscle fibers, contract, and regenerate efficiently after injury. The dystrophin-glycoprotein complex (DGC; also called the dystrophin-associated protein complex) plays a central role in all of these processes. It acts as a transmembrane platform that anchors the extracellular matrix (ECM) to the intracellular cytoskeleton and makes muscle fibers more resistant to injury...
October 25, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29053787/humanized-mutant-fus-drives-progressive-motor-neuron-degeneration-without-aggregation-in-fusdelta14-knockin-mice
#6
Anny Devoy, Bernadett Kalmar, Michelle Stewart, Heesoon Park, Beverley Burke, Suzanna J Noy, Yushi Redhead, Jack Humphrey, Kitty Lo, Julian Jaeger, Alan Mejia Maza, Prasanth Sivakumar, Cinzia Bertolin, Gianni Soraru, Vincent Plagnol, Linda Greensmith, Abraham Acevedo Arozena, Adrian M Isaacs, Benjamin Davies, Pietro Fratta, Elizabeth M C Fisher
Mutations in FUS are causative for amyotrophic lateral sclerosis with a dominant mode of inheritance. In trying to model FUS-amyotrophic lateral sclerosis (ALS) in mouse it is clear that FUS is dosage-sensitive and effects arise from overexpression per se in transgenic strains. Novel models are required that maintain physiological levels of FUS expression and that recapitulate the human disease-with progressive loss of motor neurons in heterozygous animals. Here, we describe a new humanized FUS-ALS mouse with a frameshift mutation, which fulfils both criteria: the FUS Delta14 mouse...
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28972545/neuromuscular-junction-dismantling-in-amyotrophic-lateral-sclerosis
#7
REVIEW
Valentina Cappello, Maura Francolini
Neuromuscular junction assembly and plasticity during embryonic, postnatal, and adult life are tightly regulated by the continuous cross-talk among motor nerve endings, muscle fibers, and glial cells. Altered communications among these components is thought to be responsible for the physiological age-related changes at this synapse and possibly for its destruction in pathological states. Neuromuscular junction dismantling plays a crucial role in the onset of Amyotrophic Lateral Sclerosis (ALS). ALS is characterized by the degeneration and death of motor neurons leading to skeletal muscle denervation, atrophy and, most often, death of the patient within five years from diagnosis...
October 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28904209/drosophila-mic60-mitofilin-conducts-dual-roles-in-mitochondrial-motility-and-crista-structure
#8
Pei-I Tsai, Amanda M Papakyrikos, Chung-Han Hsieh, Xinnan Wang
MIC60/mitofilin constitutes a hetero-oligomeric complex on the inner mitochondrial membranes to maintain crista structure. However, little is known about its physiological functions. Here, by characterizing Drosophila MIC60 mutants, we define its roles in vivo We discover that MIC60 performs dual functions to maintain mitochondrial homeostasis. In addition to its canonical role in crista membrane structure, MIC60 regulates mitochondrial motility, likely by influencing protein levels of the outer mitochondrial membrane protein Miro that anchors mitochondria to the microtubule motors...
September 13, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28882990/extended-synaptotagmin-localizes-to-presynaptic-er-and-promotes-neurotransmission-and-synaptic-growth-in-drosophila
#9
Koto Kikuma, Xiling Li, Daniel Kim, David Sutter, Dion K Dickman
The endoplasmic reticulum (ER) is an extensive organelle in neurons with important roles at synapses including the regulation of cytosolic Ca(2+), neurotransmission, lipid metabolism, and membrane trafficking. Despite intriguing evidence for these crucial functions, how the presynaptic ER influences synaptic physiology remains enigmatic. To gain insight into this question, we have generated and characterized mutations in the single extended synaptotagmin (Esyt) ortholog in Drosophila melanogaster Esyts are evolutionarily conserved ER proteins with Ca(2+)-sensing domains that have recently been shown to orchestrate membrane tethering and lipid exchange between the ER and plasma membrane...
November 2017: Genetics
https://www.readbyqxmd.com/read/28867551/stable-positioning-of-unc13-restricts-synaptic-vesicle-fusion-to-defined-release-sites-to-promote-synchronous-neurotransmission
#10
Suneel Reddy-Alla, Mathias A Böhme, Eric Reynolds, Christina Beis, Andreas T Grasskamp, Malou M Mampell, Marta Maglione, Meida Jusyte, Ulises Rey, Husam Babikir, Anthony W McCarthy, Christine Quentin, Tanja Matkovic, Dominique Dufour Bergeron, Zeeshan Mushtaq, Fabian Göttfert, David Owald, Thorsten Mielke, Stefan W Hell, Stephan J Sigrist, Alexander M Walter
Neural information processing depends on precisely timed, Ca(2+)-activated synaptic vesicle exocytosis from release sites within active zones (AZs), but molecular details are unknown. Here, we identify that the (M)Unc13-family member Unc13A generates release sites and show the physiological relevance of their restrictive AZ targeting. Super-resolution and intravital imaging of Drosophila neuromuscular junctions revealed that (unlike the other release factors Unc18 and Syntaxin-1A) Unc13A was stably and precisely positioned at AZs...
September 13, 2017: Neuron
https://www.readbyqxmd.com/read/28791707/preface-cholinergic-mechanisms
#11
REVIEW
Marco A M Prado, Pascale Marchot, Israel Silman
This special issue is a companion to the meeting 'XVth International Symposium on Cholinergic Mechanisms', and is edited by Israel Silman, Marco Prado and Pascale Marchot. In the review articles, renowned researchers in the field capture key mechanisms of cholinergic neurotransmission, from genomic amplification of cholinesterase genes, splicing and post-translational modifications; features of the neuromuscular junction, implications of cholinergic circuitry that are relevant to addiction, anxiety and mood, to preclinical models, protein biomarkers, and clinical findings that are relevant to pathology, for example, developmental neurotoxicity...
August 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28762314/insights-into-nicotinic-receptor-signaling-in-nicotine-addiction-implications-for-prevention-and-treatment
#12
Wuyi Liu, Ming D Li
Nicotinic acetylcholine receptors (nAChRs) belong to the Cys-loop ligand-gated ion-channel (LGIC) superfamily, which also includes the GABA, glycine, and serotonin receptors. Many nAChR subunits have been identified and shown to be involved in signal transduction on binding to them of either the neurotransmitter acetylcholine or exogenous ligands such as nicotine. The nAChRs are pentameric assemblies of homologous subunits surrounding a central pore that gates cation flux, and they are expressed at neuromuscular junctions throughout the nervous system...
August 1, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28724748/depressed-synaptic-transmission-and-reduced-vesicle-release-sites-in-huntington-s-disease-neuromuscular-junctions
#13
Ahmad Khedraki, Eric J Reed, Shannon H Romer, Qingbo Wang, William Romine, Mark M Rich, Robert J Talmadge, Andrew A Voss
Huntington's disease (HD) is a progressive and fatal degenerative disorder that results in debilitating cognitive and motor dysfunction. Most HD studies have focused on degeneration of the CNS. We previously discovered that skeletal muscle from transgenic R6/2 HD mice is hyperexcitable due to decreased chloride and potassium conductances. The progressive and early onset of these defects suggest a primary myopathy in HD. In this study, we examined the relationship between neuromuscular transmission and skeletal muscle hyperexcitability...
August 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28687442/increased-bace1-activity-inhibits-peripheral-nerve-regeneration-after-injury
#14
Carolyn Tallon, Edward Rockenstein, Eliezer Masliah, Mohamed H Farah
Axons of the peripheral nervous system possess the capacity to regenerate following injury. Previously, we showed that genetically knocking out Beta-Site APP-Cleaving Enzyme 1 (BACE1) leads to increased nerve regeneration. Two cellular components, macrophages and neurons, contribute to enhanced nerve regeneration in BACE1 knockout mice. Here, we utilized a transgenic mouse model that overexpresses BACE1 in its neurons to investigate whether neuronal BACE1 has an inverse effect on regeneration following nerve injury...
July 5, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28645846/heparan-sulfate-proteoglycans-in-drosophila-neuromuscular-development
#15
REVIEW
Keisuke Kamimura, Nobuaki Maeda
Heparan sulfate proteoglycans (HSPGs) are glycoconjugates bearing heparan sulfate (HS) chains covalently attached to core proteins, which are ubiquitously distributed on the cell surface and in the extracellular matrix. HSPGs interact with a number of molecules mainly through HS chains, which play critical roles in diverse physiological and disease processes. Among these, recent vertebrate studies showed that HSPGs are closely involved in synapse development and function. However, the detailed molecular mechanisms remain elusive...
October 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28642541/can-uk-undergraduate-dental-programmes-provide-training-in-non-surgical-facial-aesthetics
#16
T W M Walker, F Gately, S Stagnell, A Kerai, C Mills, S Thomas
Aim Recently, more and more dentists have found themselves engaging in the delivery of non-surgical facial aesthetics (NSFA) as part of their regular practice routine. NSFA is a growing field in aesthetic medicine that is practised by a range of clinicians including doctors, dentists and registered prescriber nurses and is an industry estimated to be worth over £3 billion in the UK alone. In the past few years, several public scandals in aesthetic medicine have prompted reactions by several bodies including the Government and Royal Colleges...
June 23, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28520784/presynaptic-a%C3%AE-40-prevents-synapse-addition-in-the-adult-drosophila-neuromuscular-junction
#17
Begoña López-Arias, Enrique Turiégano, Ignacio Monedero, Inmaculada Canal, Laura Torroja
Complexity in the processing of the Amyloid Precursor Protein, which generates a mixture of βamyloid peptides, lies beneath the difficulty in understanding the etiology of Alzheimer's disease. Moreover, whether Aβ peptides have any physiological role in neurons is an unresolved question. By expressing single, defined Aβ peptides in Drosophila, specific effects can be discriminated in vivo. Here, we show that in the adult neuromuscular junction (NMJ), presynaptic expression of Aβ40 hinders the synaptic addition that normally occurs in adults, yielding NMJs with an invariable number of active zones at all ages tested...
2017: PloS One
https://www.readbyqxmd.com/read/28414619/how-the-nerves-reached-the-muscle-bernard-katz-stephen-w-kuffler-and-john-c-eccles-certain-implications-of-exile-for-the-development-of-twentieth-century-neurophysiology
#18
Frank W Stahnisch
This article explores the work by Bernard Katz (1911-2003), Stephen W. Kuffler (1913-1980), and John C. Eccles (1903-1997) on the nerve-muscle junction as a milestone in twentieth-century neurophysiology with wider scientific implications. The historical question is approached from two perspectives: (a) an investigation of twentieth-century solutions to a longer physiological dispute and (b) an examination of a new kind of laboratory and academic cooperation. From this vantage point, the work pursued in Sydney by Sir John Carew Eccles' team on the neuromuscular junction is particularly valuable, since it contributed a central functional element to modern physiological understanding regarding the function and structure of the human and animal nervous system...
October 2017: Journal of the History of the Neurosciences
https://www.readbyqxmd.com/read/28342748/rnai-of-arcrna-hsr%C3%AF-affects-sub-cellular-localization-of-drosophila-fus-to-drive-neurodiseases
#19
Luca Lo Piccolo, Masamitsu Yamaguchi
Defective RNA metabolism is common pathogenic mechanisms involved in neurological disorders. Indeed, a conspicuous feature of some neurodegenerative diseases is the loss of nuclear activities of RNA-binding proteins (RBPs) like Fused in sarcoma (FUS) and eventually, their accumulation in cytoplasmic proteinaceous inclusions. Long non-coding RNAs (lncRNAs) are emerging as important regulators of tissue physiology and disease processes, including neurological disorders. A subset of these lncRNAs is the core of nuclear bodies (NBs), which are the sites of RNA processing and sequestration of specific ribonucleoproteins (RNPs) complexes...
June 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28316260/animal-physiology-and-genetic-aspects-of-ryegrass-staggers-in-grazing-sheep
#20
REVIEW
C A Morris, T T Wheeler, H V Henderson, N R Towers, S H Phua
Ryegrass staggers (RGS) is a metabolic disease of herbivores, caused by the ingestion of perennial ryegrass (Lolium perenne L.) containing a fungal endophyte (Neotyphodium lolii) which produces a tremorgenic toxin, lolitrem B. RGS has a major economic impact for agriculture in New Zealand as well as internationally. Management of RGS in grazing sheep can be problematic, and there is an incomplete knowledge of the interaction between the toxin and the grazing animal. This review is focused on recent advances in understanding the molecular physiology of RGS in the affected animal as well as the influence of animal genetics on the degree of susceptibility to RGS...
July 2017: New Zealand Veterinary Journal
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