Article (Scientific journals)
Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production.
Richard, Elodie M; Brun, Emilie; Korchagina, Julia et al.
2023In Cell Death and Disease, 14 (6), p. 387
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Keywords :
Cancer Research; Cell Biology; Cellular and Molecular Neuroscience; Immunology
Abstract :
[en] Wolfram syndrome (WS) is a rare neurodegenerative disorder encompassing diabetes mellitus, diabetes insipidus, optic atrophy, hearing loss (HL) as well as neurological disorders. None of the animal models of the pathology are presenting with an early onset HL, impeding the understanding of the role of Wolframin (WFS1), the protein responsible for WS, in the auditory pathway. We generated a knock-in mouse, the Wfs1E864K line, presenting a human mutation leading to severe deafness in affected individuals. The homozygous mice showed a profound post-natal HL and vestibular syndrome, a collapse of the endocochlear potential (EP) and a devastating alteration of the stria vascularis and neurosensory epithelium. The mutant protein prevented the localization to the cell surface of the Na+/K+ATPase β1 subunit, a key protein for the maintenance of the EP. Overall, our data support a key role of WFS1 in the maintenance of the EP and the stria vascularis, via its binding partner, the Na+/K+ATPase β1 subunit.
Disciplines :
Anatomy (cytology, histology, embryology...) & physiology
Author, co-author :
Richard, Elodie M ;  MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France. elodie.richard@umontpellier.fr
Brun, Emilie;  INM, Univ Montpellier, INSERM, Montpellier, France
Korchagina, Julia;  INM, Univ Montpellier, INSERM, Montpellier, France
Crouzier, Lucie;  MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France
Affortit, Corentin;  INM, Univ Montpellier, INSERM, Montpellier, France
Alves, Stacy;  MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France
Cazevieille, Chantal;  INM, Univ Montpellier, INSERM, Montpellier, France
Mausset-Bonnefont, Anne-Laure;  IRMB, Univ Montpellier, INSERM, Montpellier, France
Lenoir, Marc;  INM, Univ Montpellier, INSERM, Montpellier, France
Puel, Jean-Luc;  INM, Univ Montpellier, INSERM, Montpellier, France
Maurice, Tangui ;  MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France
Thiry, Marc  ;  Université de Liège - ULiège > Département des sciences de la vie > Service collectif des enseignements de biologie en bachelier
Wang, Jing;  INM, Univ Montpellier, INSERM, Montpellier, France
Delprat, Benjamin ;  MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France. benjamin.delprat@inserm.fr ; INM, Univ Montpellier, INSERM, Montpellier, France. benjamin.delprat@inserm.fr
More authors (4 more) Less
Language :
English
Title :
Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production.
Publication date :
29 June 2023
Journal title :
Cell Death and Disease
eISSN :
2041-4889
Publisher :
Springer Science and Business Media LLC, England
Volume :
14
Issue :
6
Pages :
387
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 30 June 2023

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