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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
neuroscience
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects
Neurobiology of Disease, Volume 106, Year 2017
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Description
Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal loss remain poorly understood. Here, we establish that global or neuron-specific KCC3 loss-of-function in mice leads to early neuromuscular junction (NMJ) abnormalities and muscular atrophy that are consistent with the pre-synaptic neurotransmission defects observed in patients. KCC3 depletion does not modify chloride handling, but promotes an abnormal electrical activity among primary motoneurons and mislocalization of Na+/K+-ATPase α1 in spinal cord motoneurons. Moreover, the activity-targeting drug carbamazepine restores Na+/K+-ATPase α1 localization and reduces NMJ denervation in Slc12a6−/− mice. We here propose that abnormal motoneuron electrical activity contributes to the peripheral neuropathy observed in Andermann syndrome. © 2016 Elsevier Inc.
Authors & Co-Authors
Bernard, Véronique
France, Paris
Sorbonne Université
France, Paris
Laboratoire Neuroscience Paris Seine
Dion, Patrick A.
Canada, Montreal
Université Mcgill
Canada, Montreal
University of Montreal
Butler-Browne, Gillian Sandra
France, Paris
Sorbonne Université
France, Paris
Centre de Recherche en Myologie
France, Paris
Cnrs Centre National de la Recherche Scientifique
Camu, William
France, Montpellier
Institut Des Neurosciences de Montpellier
France, Montpellier
Hopital Gui de Chauliac
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Canada, Quebec
Chu de Québec-université Laval
Delpire, Eric J.
United States, Nashville
Vanderbilt University Medical Center
Rouleau, Guy Armand
Canada, Montreal
Université Mcgill
Scamps, Frédérique
France, Montpellier
Institut Des Neurosciences de Montpellier
France, Montpellier
Université de Montpellier
Statistics
Citations: 8
Authors: 8
Affiliations: 13
Identifiers
Doi:
10.1016/j.nbd.2017.06.013
ISSN:
09699961