AI Article Synopsis
- - WBP2 is a protein that helps activate estrogen and progesterone receptors, which are important in various biological processes.
- - Research shows that the lack of WBP2 leads to hearing loss in mice and in two children with different genetic variants of the WBP2 gene.
- - The study identifies a new gene related to hearing impairment that may connect hormonal signaling to auditory issues, highlighting potential new targets for treatment.
Article Abstract
WBP2 encodes the WW domain-binding protein 2 that acts as a transcriptional coactivator for estrogen receptor α (ESR1) 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 WBP2 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772953 | PMC |
| http://dx.doi.org/10.15252/emmm.201505523 | DOI Listing |
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