2,050 results match your criteria: "Inner Ear Genetic Sensorineural Hearing Loss"

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.

BMC Med Genomics

December 2024

Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY, USA.

Background: Prelingual hearing impairment (HI) is genetically highly heterogenous. Early diagnosis and intervention are essential for psychosocial development. In this study we investigated a consanguineous family from Pakistan with autosomal recessive (AR) non-syndromic sensorineural HI (NSHI).

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The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease.

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Background: Intracochlear schwannomas (ICSs) are a subtype of intralabyrinthine schwannomas, completely located in the cochlear lumen. ICSs are particularly rare in the pediatric population. Putative diagnosis is made on the basis of magnetic resonance findings with signal characteristics that should remain the same at follow-up imaging.

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Objectives: Sensorineural hearing loss (SNHL) is a disorder characterized by the loss or impairment of cochlear hair cells or the auditory nerve. In recent years, gene therapy has emerged as a promising approach for SNHL treatment. The objective of this study is to evaluate the impact of gene therapy on the restoration or improvement of auditory function in mouse model with loss or impairment of hearing.

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Article Synopsis
  • MYO15A gene mutations are linked to severe sensorineural deafness, impacting those both before and after they acquire language, with a novel mutation (c.2482C>T) found in a Chinese Uighur family identified in this study.* -
  • Researchers created induced pluripotent stem cells (iPSCs) from family members to explore how the MYO15A mutation affects hair cell-like cells, which are important for hearing.* -
  • The findings revealed that the mutation caused noticeable differences in the structure and function of these cells, indicating a possible link to hearing loss, while not affecting the iPSCs' ability to become different cell types.*
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Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.

Proc Natl Acad Sci U S A

December 2024

Developmental Biology and Cancer Department, University College London Great Ormond Street Institute of Child Health, University College London, and National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, United Kingdom.

Variants in the gene cause Norrie disease, a severe dual-sensory disorder characterized by congenital blindness due to disrupted retinal vascular development and progressive hearing loss accompanied by sensory hair cell death. encodes the secreted signaling molecule norrin. The role of norrin in the cochlea is incompletely understood.

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Background: LHX3 is a gene encoding a LIM-homeodomain transcription factor important for the fetal development of several organs, such as the pituitary gland, spinal motor neurons and the inner ear. Pathogenic and likely pathogenic variants in the LHX3 gene are infrequent and result in a rare syndrome known as combined pituitary hormone deficiency-3, CPHD3.

Methods: We have studied hearing and vestibular functions in a group of eight individuals, aged 8-36 years, all of whom were homozygous for a specific variant in the LHX3 gene at chromosome 9q34.

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Background: In recent years, Autoimmune diseases (ADs) and hearing loss are both significant public health burdens worldwide. An increasing number of studies are focusing on the potential link between these two diseases and exploring how hearing loss can be prevented and treated in the context of autoimmune diseases. In response to this focus, it is very necessary to conduct bibliometric analysis and molecular mechanism exploration to provide guidance for the exploration of basic mechanisms and clinical management.

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The role of gene mutations and immune responses in sensorineural hearing loss.

Int Immunopharmacol

December 2024

Department of Otorhinolaryngology Head and Neck Surgery, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi Province, China. Electronic address:

Sensorineural hearing loss (SNHL) is a prevalent clinical condition primarily attributed to dysfunction within various components of the auditory pathway, spanning from the inner ear to the auditory cortex. Recent research has illuminated immune and inflammation-mediated disorders of the inner ear as critical contributors to SNHL. Disruptions in the equilibrium of inflammatory mediators, chemokines, the complement system, and inflammatory vesicles within the cochlea provoke aberrations in immune cell activity, fostering a chronic pro-inflammatory milieu that detrimentally affects the structural and functional integrity of the inner ear, culminating in hearing impairment.

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Age-related hearing loss (AHL) is a prevalent and multifaceted condition that significantly impacts a substantial portion of the aging population. Oxysterol Binding Protein-like 2 (OSBPL2) has been identified as a causal gene for hearing loss. However, its role in AHL is still unclear.

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To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome sequencing to identify underlying genetic defects. None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for variants, , , , and .

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Background: Noise-induced cochlear synaptopathy has recently emerged as a focus in hearing research.

Purpose: This study aimed to examine the impact of repeated noise exposure on the quantification and mRNA expression levels of cochlear synapses.

Methods: Measurements were conducted at baseline, 1 day, and 14 days post-exposure to 88 or 97 dB SPL noise (2 h/day for 7 days, frequency range 2-20 kHz).

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Connexin30-deficient mice increase susceptibility to noise via redox and lactate imbalances.

Free Radic Biol Med

November 2024

Department of Otorhinolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, China; Shanghai Jiaotong University School of Medicine Ear Institute, Shanghai, China. Electronic address:

Article Synopsis
  • Noise is responsible for one-third of global hearing loss, caused by a combination of genetic and environmental factors, including defective proteins like connexin 26 and connexin 30.* -
  • The study found that mice lacking connexin 30 exhibited worse hearing recovery and greater sensitivity to noise, showing increased damage to hair cells and synapses.* -
  • Cx30 knockout mice had altered glucose metabolism, characterized by increased lactate and oxidative stress, suggesting that a deficiency in Cx30 leads to greater susceptibility to noise-induced hearing loss.*
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Introduction: Congenital deafness is a pathological entity that represents an economical and social burden, affecting up to 0.2% of newborns in Europe. Sensorineural hearing loss (SHL) is caused by a variety of factors, including congenital abnormalities, perinatal infectious diseases and genetic syndromes.

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Single cell RNA sequencing provides novel cellular transcriptional profiles and underlying pathogenesis of presbycusis.

BMC Med Genomics

September 2024

Department of Otorhinolaryngology Head and Neck Surgery, Chongqing General Hospital, No.118, Xingguang Avenue, Liangjiang New Area, Chongqing, 401147, China.

Age-related hearing loss (ARHL) or presbycusis is associated with irreversible progressive damage in the inner ear, where the sound is transduced into electrical signal; but the detailed mechanism remains unclear. Here, we sought to determine the potential molecular mechanism involved in the pathogeneses of ARHL with bioinformatics methods. A single-cell transcriptome sequencing study was performed on the cochlear samples from young and aged mice.

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Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.

Int J Mol Sci

September 2024

Molecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA.

Article Synopsis
  • Usher syndrome (USH) is a genetic disorder that causes hearing loss, vision loss due to retinitis pigmentosa, and balance issues, classified into three types without early detection biomarkers.
  • The study investigated the differences in microRNA (miRNA) expression in cell lines from USH patients versus healthy controls, using Epstein-Barr virus to transform lymphocytes for analysis.
  • Findings showed 92 miRNAs were differentially expressed in USH, with specific patterns tied to each type, and three crucial miRNAs associated with sensory development were notably downregulated, offering potential insights for identifying USH.
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Modulating the unfolded protein response with ISRIB mitigates cisplatin ototoxicity.

Sci Rep

September 2024

Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco (UCSF), 513 Parnassus Ave, Rm 719, San Francisco, CA, 94143, USA.

Cisplatin is a commonly used chemotherapy agent with a nearly universal side effect of sensorineural hearing loss. The cellular mechanisms underlying cisplatin ototoxicity are poorly understood. Efforts in drug development to prevent or reverse cisplatin ototoxicity have largely focused on pathways of oxidative stress and apoptosis.

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Exploring delivery systems for targeted nanotechnology-based gene therapy in the inner ear.

Ther Deliv

October 2024

The Biotechnology & Drug Development Research Laboratory, Curtin Medical School & Curtin Health Innovation Research Institute, Curtin University, Bentley, 6102, Western Australia, Australia.

Article Synopsis
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Central Hearing Loss in a Pediatric Patient.

Laryngoscope

January 2025

Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, California, U.S.A.

Sensorineural hearing loss is typically caused by dysfunction of the inner ear or auditory nerve. In pediatric patients diagnosed with sensorineural hearing loss, work-up often includes genetic testing and imaging studies of the auditory pathway. Here, we report a case of a pediatric patient with a history of sensorineural hearing loss following cisplatin and radiation therapy for brainstem medulloblastoma, developing symptoms and signs of central hearing loss based on audiometric and MRI/diffusion tensor imaging studies.

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Hearing loss is the third leading cause of human disability. Age-related hearing loss, one type of acquired sensorineural hearing loss, is largely responsible for this escalating global health burden. Noise-induced, ototoxic, and idiopathic sudden sensorineural are other less common types of acquired hearing loss.

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Urolithin A prevents age-related hearing loss in C57BL/6J mice likely by inducing mitophagy.

Exp Gerontol

November 2024

Department of Otolaryngology-Head and Neck Surgery, Chosun University College of Medicine, Gwangju, Republic of Korea.

Mitochondrial dysfunction with aging is associated with the development of age-related hearing loss. Mitophagy is a cardinal mechanism to maintain a healthy mitochondrial population through the turnover of damaged mitochondria. Declining mitophagy with age causes a buildup of damaged mitochondria, leading to sensory organ dysfunction.

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Cochlear implantation in a familial rare syndromic ossification-related deafness and literature review.

Acta Otolaryngol

October 2024

Department of Otorhinolaryngology and Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, P. R. China.

Article Synopsis
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Article Synopsis
  • Autosomal recessive non-syndromic deafness-28 (DFNB28) is a type of prelingual sensorineural hearing loss linked to mutations in the TRIOBP gene, which was identified in a pediatric patient with novel genetic variants.
  • The patient's hearing assessment showed bilateral deafness, and comprehensive whole exome sequencing was used to identify these genetic mutations.
  • The analysis found two significant variants in the TRIOBP gene, with one being classified as pathogenic, suggesting these mutations are likely responsible for the patient's hearing loss, but further research is needed to clarify their effects fully.
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Multiomic-based immune response profiling in migraine, vestibular migraine and Meniere's disease.

Immunology

December 2024

Meniere Disease Neuroscience Research Program, Faculty of Medicine and Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Sydney, New South Wales, Australia.

Article Synopsis
  • Migraines (MI) are a common brain problem affecting about 20% of people worldwide, and some people with migraines also have balance issues, which is called vestibular migraine (VM).
  • Meniere's disease (MD) is another condition that affects the inner ear and can cause spinning sensations, ringing in the ears, and hearing loss, which sometimes overlaps with vestibular migraine symptoms.
  • A study compared blood samples from people with migraines, vestibular migraines, Meniere's disease, and healthy individuals, finding that migraines and vestibular migraines have similar immune responses, while Meniere's disease shows different immune reactions and can be divided into two types based on activity.
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