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Title: Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1
Authors: Bos, Rémi
Rihan, Khalil
Quintana, Patrice
El-Bazzal, Lara
Bernard-Marissal, Nathalie
Da Silva, Nathalie
Jabbour, Rosette
Mégarbané, André
Bartoli, Marc
Brocard, Frédéric
Delague, Valérie
Affiliations: Faculty of Medicine 
Keywords: Action potential waveform
Axonal initial segment
Firing pattern
Inherited peripheral neuropathy
Motor neuron disease
Issue Date: 2022
Publisher: Elsevier
Part of: Neurobiology of Disease
Volume: 164
We recently described new pathogenic variants in VRK1, in patients affected with distal Hereditary Motor Neuropathy associated with upper motor neurons signs. Specifically, we provided evidences that hiPSC-derived Motor Neurons (hiPSC-MN) from these patients display Cajal Bodies (CBs) disassembly and defects in neurite outgrowth and branching. We here focused on the Axonal Initial Segment (AIS) and the related firing properties of hiPSC-MNs from these patients. We found that the patient's Action Potential (AP) was smaller in amplitude, larger in duration, and displayed a more depolarized threshold while the firing patterns were not altered. These alterations were accompanied by a decrease in the AIS length measured in patients' hiPSC-MNs. These data indicate that mutations in VRK1 impact the AP waveform and the AIS organization in MNs and may ultimately lead to the related motor neuron disease.
ISSN: 09699961
DOI: 10.1016/j.nbd.2021.105609
Ezproxy URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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