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Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise.

ABSTRACT: Gap junction gene GJB2 (Cx26) mutations cause >50% of nonsyndromic hearing loss. Its recessive hetero-mutation carriers, who have no deafness, occupy ~10 to 20% of the general population. Here, we report an unexpected finding that these heterozygote carriers have hearing oversensitivity, and active cochlear amplification increased. Mouse models show that Cx26 hetero-deletion reduced endocochlear potential generation in the cochlear lateral wall and caused outer hair cell electromotor protein prestin compensatively up-regulated to increase active cochlear amplification and hearing sensitivity. The increase of active cochlear amplification also increased sensitivity to noise; exposure to daily-level noise could cause Cx26^+/- mice permanent hearing threshold shift, leading to hearing loss. This study demonstrates that Cx26 recessive heterozygous mutations are not "harmless" for hearing as previously considered and can cause hyperacusis-like hearing oversensitivity. The data also indicate that GJB2 hetero-mutation carriers are vulnerable to noise and should avoid noise exposure in daily life.

SUBMITTER: Liu LM

PROVIDER: S-EPMC9908021 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise.

Liu Li-Man LM Liang Chun C Chen Jin J Fang Shu S Zhao Hong-Bo HB

Science advances 20230208 6

Gap junction gene <i>GJB2</i> (Cx26) mutations cause >50% of nonsyndromic hearing loss. Its recessive hetero-mutation carriers, who have no deafness, occupy ~10 to 20% of the general population. Here, we report an unexpected finding that these heterozygote carriers have hearing oversensitivity, and active cochlear amplification increased. Mouse models show that Cx26 hetero-deletion reduced endocochlear potential generation in the cochlear lateral wall and caused outer hair cell electromotor prot ...[more]

PMID: 36753545

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Project description:PurposeMany workers in developing countries are exposed to unsafe occupational noise due to inadequate health and safety practices. We tested the hypotheses that occupational noise exposure and aging affect speech-perception-in-noise (SPiN) thresholds, self-reported hearing ability, tinnitus presence, and hyperacusis severity among Palestinian workers.MethodPalestinian workers (N = 251, aged 18-70 years) without diagnosed hearing or memory impairments completed online instruments including a noise exposure questionnaire; forward and backward digit span tests; hyperacusis questionnaire; the short-form Speech, Spatial and Qualities of Hearing Scale (SSQ12); the Tinnitus Handicap Inventory; and a digits-in-noise (DIN) test. Hypotheses were tested via multiple linear and logistic regression models, including age and occupational noise exposure as predictors, and with sex, recreational noise exposure, cognitive ability, and academic attainment as covariates. Familywise error rate was controlled across all 16 comparisons using the Bonferroni-Holm method. Exploratory analyses evaluated effects on tinnitus handicap. A comprehensive study protocol was preregistered.ResultsNonsignificant trends of poorer SPiN performance, poorer self-reported hearing ability, greater prevalence of tinnitus, greater tinnitus handicap, and greater severity of hyperacusis as a function of higher occupational noise exposure were observed. Greater hyperacusis severity was significantly predicted by higher occupational noise exposure. Aging was significantly associated with higher DIN thresholds and lower SSQ12 scores, but not with tinnitus presence, tinnitus handicap, or hyperacusis severity.ConclusionsWorkers in Palestine may suffer from auditory effects of occupational noise and aging despite no formal diagnosis. These findings highlight the importance of occupational noise monitoring and hearing-related health and safety practices in developing countries.Supplemental materialhttps://doi.org/10.23641/asha.22056701.

Dataset Information

Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise.

Publications

Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise.

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