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Updated: Apr 30, 2026
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Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
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Association of GJB2 P.V37I With Sudden Sensorineural Hearing Loss and Endoplasmic Reticulum Stress
Kuang-Hsu Lien1,2,3, Chia-Lung Tsai4, Yun-Shien Lee5
1Department of Otolaryngology-Head & Neck Surgery, Linkou Chang Gung Memorial Hospital, Guishan District, Taoyuan, 33305, Taiwan.
Summary
The GJB2 p.V37I variant increases sudden sensorineural hearing loss (SSNHL) risk and recurrence, potentially via endoplasmic reticulum (ER) stress. Genetic screening for this variant may aid in understanding SSNHL.
Area of Science:
- Genetics
- Otolaryngology
- Molecular Biology
Background:
- Sudden sensorineural hearing loss (SSNHL) is an idiopathic condition with complex etiologies.
- Genetic factors are implicated in SSNHL susceptibility, but specific variants require further investigation.
- Endoplasmic reticulum (ER) stress pathways are increasingly recognized in cellular dysfunction.
Purpose of the Study:
- To investigate the association between the GJB2 p.V37I variant and SSNHL susceptibility.
- To explore the role of the GJB2 p.V37I variant in ER stress.
- To analyze the correlation of GJB2 p.V37I with SSNHL severity and recurrence.
Main Methods:
- A genetic association study screened 145 SSNHL patients for GJB2 variants.
- Allele frequencies of GJB2 p.V37I were compared with the Taiwan Biobank.
- In vitro functional studies in HEI-OC1 cells assessed ER stress markers (GRP78, CHOP) under tunicamycin induction.
Main Results:
- The GJB2 p.V37I variant was significantly enriched in SSNHL patients (26.9%) compared to controls (8.6%).
- This variant was associated with increased prevalence of moderate to severe SSNHL and recurrent episodes.
- In vitro studies demonstrated that GJB2 p.V37I expression elevated ER stress markers in cochlear hair cells.
Conclusions:
- The heterozygous GJB2 p.V37I variant is linked to heightened susceptibility and recurrence of SSNHL.
- ER stress mechanisms may underlie the pathogenic role of the GJB2 p.V37I variant in SSNHL.
- Genetic screening for GJB2 p.V37I is supported, warranting further mechanistic research.
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