Article
Cell Biology
Takashi Kojima, Koichiro Wasano, Satoe Takahashi, Kazuaki Homma
Summary: KCNQ4 gene is the causative gene for autosomal dominant nonsyndromic sensorineural hearing loss, DFNA2, with many variants showing dominant-negative inhibition. Truncated Kv7.4 variants lacking the C-terminal tetramerization region may result in relatively mild hearing loss. Further studies on Kv7.4 and Kv7.1 variants have shown cell death-inducing effects, with potential for alternative therapeutic strategies utilizing autophagy inducers.
DISEASE MODELS & MECHANISMS
(2021)
Article
Neurosciences
T. Bayasgalan, S. Stupniki, A. Kovacs, A. Csemer, P. Szentesi, K. Pocsai, L. Dionisio, G. Spitzmaul, B. Pal
Summary: Research shows that the KCNQ4 subunit is present in a subpopulation of cholinergic neurons in the pedunculopontine nucleus (PPN) and may contribute to the regulation of the sleep-wakefulness cycle.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Pediatrics
Vicky W. Zhang, Sanna Hou, Angela Wong, Christopher Flynn, Jane Oliver, Michelle Weiss, Stacey Milner, Teresa Y. C. Ching
Summary: This study aimed to investigate the audiological characteristics of children with congenital unilateral hearing loss (UHL) and examine the age at which reliable behavioural audiograms can be obtained. It was found that a significant number of children experienced deterioration in hearing levels from diagnosis at birth to the first reliable behavioural audiogram, particularly in the lower frequency ranges. Monitoring of hearing threshold levels after diagnosis is crucial for timely intervention.
FRONTIERS IN PEDIATRICS
(2023)
Article
Cell Biology
Luis R. Cassinotti, Lingchao Ji, Beatriz C. Borges, Nathan D. Cass, Aditi S. Desai, David C. Kohrman, M. Charles Liberman, Gabriel Corfas
Summary: Age-related hearing loss (ARHL) is a common sensory deficit in the elderly, often accompanied by psychological and medical comorbidities. Synaptic loss between spiral ganglion neurons and inner hair cells is an early event in cochlear aging. Overexpressing neurotrophin-3 can prevent synaptic pathology and improve cochlear function, leading to milder ARHL in older mice.
Article
Medicine, Research & Experimental
Xiaolong Zhang, Tao Shi, Jin Li, Xiaonan Wu, Kaili Wu, Danyang Li, Dayong Wang, Jing Guan, Hongyang Wang
Summary: This study focuses on the relationship between KCNQ4 gene and hearing loss, finding that patients with the KCNQ4 p.G285S variant have a faster rate of hearing loss. Long-term follow-up of patients was conducted, and patient-derived induced pluripotent stem cells (iPSCs) and a mouse model were generated for further analysis.
Article
Medicine, Research & Experimental
Byunghwa Noh, John Hoon Rim, Ramu Gopalappa, Haiyue Lin, Kyu Min Kim, Min Jin Kang, Heon Yung Gee, Jae Young Choi, Hyongbum Henry Kim, Jinsei Jung
Summary: In vivo gene editing targeting outer hair cells using a dual adeno-associated virus package significantly improved auditory thresholds and a new live-cell imaging technique demonstrated the enhanced activity of KCNQ4 channels after disruption of mutant allele. These findings support the development of targeted therapies for DFNA2 and the potential use of CRISPR-based gene therapy to rectify defects in outer hair cells.
Article
Geriatrics & Gerontology
Barbara Peixoto Pinheiro, Youssef Adel, Marlies Knipper, Marcus Mueller, Hubert Loewenheim
Summary: Age-related hearing loss (ARHL) is a common sensory deficit in aging society, leading to speech discrimination difficulties, social isolation, and cognitive decline in noisy environments. The study suggests that analyzing auditory function of SAMP8 mice can predict age-related hearing loss, highlighting the importance of further investigation into phenotypic predictors affected by metabolic challenges in the aging process.
FRONTIERS IN AGING NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Elnaz Naderi, Diana M. M. Cornejo-Sanchez, Guangyou Li, Isabelle Schrauwen, Gao T. T. Wang, Andrew T. T. Dewan, Suzanne M. M. Leal
Summary: This study identified genetic variants on the X chromosome associated with age-related hearing loss (ARHL) through data analysis from the UK Biobank. Three loci were found to be significantly associated with ARHL, with two loci showing significance in both males and females and one locus showing significance in males only. The study suggests that the contribution of the X chromosome to the etiology of ARHL may be limited.
FRONTIERS IN GENETICS
(2023)
Article
Neurosciences
Evie C. Landry, Mirre Scholte, Matthew P. Su, Yvette Horstink, Rishi Mandavia, Maroeska M. Rovers, Anne G. M. Schilder
Summary: This study utilizes health economic modeling to assess the cost-effectiveness of novel hearing therapeutics for age-related sensorineural hearing loss. The results indicate that these novel treatments may be cost-effective under current willingness-to-pay thresholds, providing better outcomes and cost savings compared to the current standard of care.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Otorhinolaryngology
Shadi Ahmadmehrabi, Binglan Li, Douglas J. Epstein, Michael J. Ruckenstein, Jason A. Brant
Summary: The cookie-bite audiogram shape shows low sensitivity and positive predictive value in stratifying patients carrying putative loss-of-function variants in known HL genes from wild-type controls, indicating that it should not be used as a screening tool for genetic testing in adults.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2022)
Article
Audiology & Speech-Language Pathology
Manuella Lech Cantuaria, Ellen Raben Pedersen, Frans Boch Waldorff, Mette Sorensen, Jesper Hvass Schmidt
Summary: This study introduced and documented the HESD database while describing the hearing loss characteristics of the study sample. Results showed significant differences in hearing loss characteristics between men and women, with both genders having higher prevalence of unilateral, moderate, and sensorineural HL.
INTERNATIONAL JOURNAL OF AUDIOLOGY
(2021)
Article
Clinical Neurology
Itay Chen, Shalom Eligal, Ori Menahem, Riki Salem, Jean-Yves Sichel, Ronen Perez, Chanan Shaul
Summary: This retrospective study aimed to investigate the relationship between treatment initiation time and treatment outcomes for sudden sensorineural hearing loss (SSNHL). The study found that the average period from symptom onset to treatment initiation was 10.8 days, and significant hearing improvement was observed within 2 weeks of treatment initiation. Other prognostic factors measured were not found to be statistically significant predictors.
FRONTIERS IN NEUROLOGY
(2023)
Review
Neurosciences
Tingting Zhao, Guangyong Tian
Summary: This paper provides an overview of the research on the connection between SIRT1 and age-related hearing loss (ARHL), including the functions of SIRT1 and its important role in ARHL. The review concludes with a look at possible research directions for ARHL in the future.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Immunology
Peifan Li, Tingting Qian, Shan Sun
Summary: The cochlea encodes sound stimuli and transmits them to the central nervous system. Damage to sensory cells and synapses in the cochlea leads to hearing loss. Recent studies have found the presence of resident macrophages in the cochlea, which are responsible for detecting and clearing cellular debris and pathogens. Insult to the cochlea can activate these macrophages to initiate immune responses. This review focuses on their distribution, functions, and potential therapeutic interventions for hearing loss.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Medicine, General & Internal
Torsten Rahne, Telse M. Wagner, Anna C. Kopsch, Stefan K. Plontke, Luise Wagner
Summary: The aim of this study was to measure the effect of age on speech recognition and listening effort, as well as the influence of spatial configuration of sound sources and noise signals. The results showed that speech recognition in noise decreased with age, especially for icra5 noise. Additionally, SRT50 and SNRcut were better for icra5 noise compared to olnoise across all age groups.
JOURNAL OF CLINICAL MEDICINE
(2023)