Open AccessWbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing
Author(s) -
Buniello Annalisa,
Ingham Neil J,
Lewis Morag A,
Huma Andreea C,
MartinezVega Raquel,
VarelaNieto Isabel,
VizcayBarrena Gema,
Fleck Roland A,
Houston Oliver,
Bardhan Tanaya,
Johnson Stuart L,
White Jacqueline K,
Yuan Huijun,
Marcotti Walter,
Steel Karen P
Publication year - 2016
Publication title -
embo molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.923
H-Index - 107
eISSN - 1757-4684
pISSN - 1757-4676
DOI - 10.15252/emmm.201505523
Subject(s) - cochlea , glutamatergic , neuroscience , audiology , biology , medicine , glutamate receptor , receptor , genetics
Abstract WBP 2 encodes the WW domain‐binding protein 2 that acts as a transcriptional coactivator for estrogen receptor α ( ESR 1 ) and progesterone receptor ( PGR ). We reported that the loss of Wbp2 expression leads to progressive high‐frequency hearing loss in mouse, as well as in two deaf children, each carrying two different variants in the WBP 2 gene. The earliest abnormality we detect in Wbp2‐deficient mice is a primary defect at inner hair cell afferent synapses. This study defines a new gene involved in the molecular pathway linking hearing impairment to hormonal signalling and provides new therapeutic targets.