Special Issue "Integration of Clinical and Molecular Studies in Understanding the Pathogenesis of Hearing Loss: From Cause to Cure"

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Otolaryngology".

Deadline for manuscript submissions: 28 February 2023 | Viewed by 607

Special Issue Editors

Dr. Silvia Dossena
E-Mail Website
Guest Editor
Institute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, Austria
Interests: hearing loss; gene analysis; SLC26A4/pendrin; Pendred syndrome; Enlarged Vestibular Aqueduct (EVA); ion transport; functional testing; ion channels; ion exchangers; oxidative stress
Special Issues, Collections and Topics in MDPI journals
Dr. Sebastian Roesch
E-Mail Website
Guest Editor
Department of Otolaryngology, Head and Neck Surgery, University Clinics Salzburg, Paracelsus Medical University, Salzburg, Austria
Interests: hearing loss; gene analysis; SLC26A4/pendrin; Pendred syndrome; Enlarged Vestibular Aqueduct (EVA); mitochondrial disease

Special Issue Information

Dear Colleagues,

Hearing loss affects at least 1 in 1000 newborns, is a major cause of disability in children and adults, and markedly affects quality of life. Inner ear malfunction, also called sensorineural hearing loss, is caused by damage to the sensory cells and/or nerve fibers of the inner ear. Genetic alterations, exposure to drugs or noise, as well as aging are among the causes of sensorineural hearing loss. Moreover, structures of the central hearing system may also be affected, potentially contributing to hearing loss. An accurate clinical appraisal plays a fundamental role in assisting patients with hearing loss. At the same time, identification of the precise molecular mechanism of hearing loss is essential to develop novel therapies. Therefore, a close integration of clinical and molecular studies is necessary to progress from cause to cure. In research-based medical care, clinical observations stimulate research, which paves the way for novel therapeutic strategies and eventually leads back to the bedside for their implementation.

The scope of this Special Issue is to collect and contribute to the dissemination of novel insights on the causes of hearing loss. Clinical studies must be accompanied by evidence illuminating the molecular mechanism of the disease and suggesting novel options and targets for therapy. The submission of original articles is encouraged; review articles as well as commentaries will also be accepted. Please note that case studies, case series, study protocols and mini reviews will not be considered.

Dr. Silvia Dossena
Dr. Sebastian Roesch
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • sensorineural hearing loss
  • genetic hearing loss
  • age-related hearing loss
  • noise-induced hearing loss
  • drug-induced hearing loss
  • gene analysis
  • molecular mechanism
  • molecular diagnostic
  • auditory cortex
  • retro-cochlear hearing loss

Published Papers (1 paper)

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Research

Article
Molecular Features of SLC26A4 Common Variant p.L117F
J. Clin. Med. 2022, 11(19), 5549; https://doi.org/10.3390/jcm11195549 - 22 Sep 2022
Viewed by 273
Abstract
The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal recessive hearing loss. SLC26A4 c.349C>T, p.L117F is a relatively common allele in the Ashkenazi Jewish community, where its minor allele frequency is increased [...] Read more.
The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal recessive hearing loss. SLC26A4 c.349C>T, p.L117F is a relatively common allele in the Ashkenazi Jewish community, where its minor allele frequency is increased compared to other populations. Although segregation and allelic data support the pathogenicity of this variant, former functional tests showed characteristics that were indistinguishable from those of the wild-type protein. Here, we applied a triad of cell-based assays, i.e., measurement of the ion transport activity by a fluorometric method, determination of the subcellular localization by confocal microscopy, and assessment of protein expression levels, to conclusively assign or exclude the pathogenicity of SLC26A4 p.L117F. This protein variant showed a moderate, but significant, reduction in ion transport function, a partial retention in the endoplasmic reticulum, and a strong reduction in expression levels as a consequence of an accelerated degradation by the Ubiquitin Proteasome System, all supporting pathogenicity. The functional and molecular features of human pendrin p.L117F were recapitulated by the mouse ortholog, thus indicating that a mouse carrying this variant might represent a good model of Pendred syndrome/DFNB4. Full article
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