Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy.

Aging / genetics Animals Body Weight Disease Models, Animal Female Gene Expression Gene Knockout Techniques Longevity / genetics Male Mice Mice, Knockout Motor Activity Motor Neurons / cytology Muscle, Skeletal / innervation Muscular Atrophy, Spinal / genetics Neuromuscular Junction / metabolism Sciatic Nerve / metabolism Severity of Illness Index Sex Factors Survival of Motor Neuron 1 Protein / genetics Synaptic Transmission / physiology Tissue Culture Techniques
Aging Electrophysiology Non-neuronal defects SMN Sex difference Type IV

Journal

EBioMedicine
ISSN: 2352-3964
Titre abrégé: EBioMedicine
Pays: Netherlands
ID NLM: 101647039

Informations de publication

Date de publication:
May 2020
Historique:
received: 18 09 2019
revised: 25 02 2020
accepted: 19 03 2020
pubmed: 28 4 2020
medline: 2 4 2021
entrez: 28 4 2020
Statut: ppublish

Résumé

Mouse models of mild spinal muscular atrophy (SMA) have been extremely challenging to generate. This paucity of model systems has limited our understanding of pathophysiological events in milder forms of the disease and of the effect of SMN depletion during aging. A mild mouse model of SMA, termed Smn Smn The Smn This work was supported by Cure SMA/Families of SMA Canada (grant numbers KOT-1819 and KOT-2021); Muscular Dystrophy Association (USA) (grant number 575466); and Canadian Institutes of Health Research (CIHR) (grant number PJT-156379).

Sections du résumé

BACKGROUND BACKGROUND
Mouse models of mild spinal muscular atrophy (SMA) have been extremely challenging to generate. This paucity of model systems has limited our understanding of pathophysiological events in milder forms of the disease and of the effect of SMN depletion during aging.
METHODS METHODS
A mild mouse model of SMA, termed Smn
FINDINGS RESULTS
Smn
INTERPRETATION CONCLUSIONS
The Smn
FUNDING BACKGROUND
This work was supported by Cure SMA/Families of SMA Canada (grant numbers KOT-1819 and KOT-2021); Muscular Dystrophy Association (USA) (grant number 575466); and Canadian Institutes of Health Research (CIHR) (grant number PJT-156379).

Identifiants

DOI: 10.1016/j.ebiom.2020.102750 PMID: 32339936 PMC: PMC7184161
pubmed: 32339936
pii: S2352-3964(20)30125-0
doi: 10.1016/j.ebiom.2020.102750
pmc: PMC7184161
pii:
doi:

Substances chimiques

Smn1 protein, mouse 0
Survival of Motor Neuron 1 Protein 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

102750

Informations de copyright

Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest Marc-Olivier Deguise received honoraria and travel accommodations by Biogen for the SMA Summit 2018 held in Montreal, Canada and the SMA Academy 2019 held in Toronto, Canada. Rashmi Kothary and the Ottawa Hospital Research Institute have a licensing agreement with Biogen for the Smn(2B/-) mouse model. These COI are outside the scope of this study. All other authors have no competing interests to declare.

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Auteurs

Marc-Olivier Deguise (MO)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada.

Yves De Repentigny (Y)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada.

Alexandra Tierney (A)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada.

Ariane Beauvais (A)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada.

Jean Michaud (J)

Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada.

Lucia Chehade (L)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada.

Mohamed Thabet (M)

Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada.

Brittany Paul (B)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada.

Aoife Reilly (A)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada.

Sabrina Gagnon (S)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada.

Jean-Marc Renaud (JM)

Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada.

Rashmi Kothary (R)

Regenerative Medicine Program, Ottawa Hospital Research Institute, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada; Department of Biochemistry, Microbiology, and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada; Department of Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada. Electronic address: rkothary@ohri.ca.

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Classifications MeSH

questionsmedicales.fr › Phénomènes physiologiques › Croissance et développement › Vieillissement › Motor transmission defects with sex...
questionsmedicales.fr › Eucaryotes › Animaux › Motor transmission defects with sex...
questionsmedicales.fr › Phénomènes physiologiques › Croissance et développement › Croissance › Mensurations corporelles › Poids › Motor transmission defects with sex...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Motor transmission defects with sex...
questionsmedicales.fr › Phénomènes génétiques › Expression des gènes › Motor transmission defects with sex...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Ciblage de gène › Techniques de knock-out de gènes › Motor transmission defects with sex...
questionsmedicales.fr › Phénomènes physiologiques › Longévité › Motor transmission defects with sex...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Motor transmission defects with sex...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Motor transmission defects with sex...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système locomoteur › Mouvement › Activité motrice › Motor transmission defects with sex...
questionsmedicales.fr › Cellules › Neurones › Neurones efférents › Motoneurones › Motor transmission defects with sex...
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › Motor transmission defects with sex...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies du motoneurone › Amyotrophie spinale › Motor transmission defects with sex...
questionsmedicales.fr › Cellules › Structures cellulaires › Membrane cellulaire › Structures de la membrane cellulaire › Jonctions intercellulaires › Synapses › Synapse neuro-effectrice › Jonction neuromusculaire › Motor transmission defects with sex...
questionsmedicales.fr › Système nerveux › Système nerveux périphérique › Nerfs périphériques › Nerfs spinaux › Plexus lombosacral › Nerf ischiatique › Motor transmission defects with sex...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Enquêtes de santé › Indicateurs d'état de santé › Acuité des besoins du patient › Indice de gravité de la maladie › Motor transmission defects with sex...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs sexuels › Motor transmission defects with sex...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines du complexe SMN › Protéine-1 de survie du motoneurone › Motor transmission defects with sex...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Transmission synaptique › Motor transmission defects with sex...
questionsmedicales.fr › Techniques d'investigation › Techniques in vitro › Techniques de culture › Techniques de culture de tissus › Motor transmission defects with sex...