Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Nikoletta Charizopoulou, Andrea Lelli, Margit Schraders, Kausik Ray, Michael S. Hildebrand, Arabandi Ramesh, C. R. Srikumari Srisailapathy, Jaap Oostrik, Ronald J. C. Admiraal, Harold R. Neely, Joseph R. Latoche, Richard J. H. Smith, John K. Northup, Hannie Kremer, Jeffrey R. Holt and Konrad Noben-Trauth ()
Additional contact information
Nikoletta Charizopoulou: Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health
Andrea Lelli: University of Virginia School of Medicine
Margit Schraders: Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre
Kausik Ray: Section on Signal Transduction, Laboratory of Cellular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health
Michael S. Hildebrand: University of Iowa
Arabandi Ramesh: University of Madras
C. R. Srikumari Srisailapathy: University of Madras
Jaap Oostrik: Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre
Ronald J. C. Admiraal: Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre
Harold R. Neely: Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health
Joseph R. Latoche: Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health
Richard J. H. Smith: University of Iowa
John K. Northup: Section on Signal Transduction, Laboratory of Cellular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health
Hannie Kremer: Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre
Jeffrey R. Holt: University of Virginia School of Medicine
Konrad Noben-Trauth: Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health

Nature Communications, 2011, vol. 2, issue 1, 1-12

Abstract: Abstract Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (juvenile audiogenic monogenic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans. Gipc3 localizes to inner ear sensory hair cells and spiral ganglion. A missense mutation in the PDZ domain has an attenuating effect on mechanotransduction and the acquisition of mature inner hair cell potassium currents. Magnitude and temporal progression of wave I amplitude of afferent neurons correlate with susceptibility and resistance to audiogenic seizures. The Gipc3343A allele disrupts the structure of the stereocilia bundle and affects long-term function of auditory hair cells and spiral ganglion neurons. Our study suggests a pivotal role of Gipc3 in acoustic signal acquisition and propagation in cochlear hair cells.

Date: 2011
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/ncomms1200 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:2:y:2011:i:1:d:10.1038_ncomms1200

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms1200

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().