Cargando…

Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development

Subjective tinnitus is the perception of sound in the absence of external or bodily-generated sounds. Chronic tinnitus is a highly prevalent condition affecting over 70 million people in Europe. A wide variety of comorbidities, including hearing loss, psychiatric disorders, neurodegenerative disorde...

Descripción completa

Detalles Bibliográficos
Autores principales: Lopez-Escamez, Jose A., Bibas, Thanos, Cima, Rilana F. F., Van de Heyning, Paul, Knipper, Marlies, Mazurek, Birgit, Szczepek, Agnieszka J., Cederroth, Christopher R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990555/
https://www.ncbi.nlm.nih.gov/pubmed/27594824
http://dx.doi.org/10.3389/fnins.2016.00377
_version_ 1782448715917688832
author Lopez-Escamez, Jose A.
Bibas, Thanos
Cima, Rilana F. F.
Van de Heyning, Paul
Knipper, Marlies
Mazurek, Birgit
Szczepek, Agnieszka J.
Cederroth, Christopher R.
author_facet Lopez-Escamez, Jose A.
Bibas, Thanos
Cima, Rilana F. F.
Van de Heyning, Paul
Knipper, Marlies
Mazurek, Birgit
Szczepek, Agnieszka J.
Cederroth, Christopher R.
author_sort Lopez-Escamez, Jose A.
collection PubMed
description Subjective tinnitus is the perception of sound in the absence of external or bodily-generated sounds. Chronic tinnitus is a highly prevalent condition affecting over 70 million people in Europe. A wide variety of comorbidities, including hearing loss, psychiatric disorders, neurodegenerative disorders, and temporomandibular joint (TMJ) dysfunction, have been suggested to contribute to the onset or progression of tinnitus; however, the precise molecular mechanisms of tinnitus are not well understood and the contribution of genetic and epigenetic factors remains unknown. Human genetic studies could enable the identification of novel molecular therapeutic targets, possibly leading to the development of novel pharmaceutical therapeutics. In this article, we briefly discuss the available evidence for a role of genetics in tinnitus and consider potential hurdles in designing genetic studies for tinnitus. Since multiple diseases have tinnitus as a symptom and the supporting genetic evidence is sparse, we propose various strategies to investigate the genetic underpinnings of tinnitus, first by showing evidence of heritability using concordance studies in twins, and second by improving patient selection according to phenotype and/or etiology in order to control potential biases and optimize genetic data output. The increased knowledge resulting from this endeavor could ultimately improve the drug development process and lead to the preventive or curative treatment of tinnitus.
format Online
Article
Text
id pubmed-4990555
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-49905552016-09-02 Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development Lopez-Escamez, Jose A. Bibas, Thanos Cima, Rilana F. F. Van de Heyning, Paul Knipper, Marlies Mazurek, Birgit Szczepek, Agnieszka J. Cederroth, Christopher R. Front Neurosci Neuroscience Subjective tinnitus is the perception of sound in the absence of external or bodily-generated sounds. Chronic tinnitus is a highly prevalent condition affecting over 70 million people in Europe. A wide variety of comorbidities, including hearing loss, psychiatric disorders, neurodegenerative disorders, and temporomandibular joint (TMJ) dysfunction, have been suggested to contribute to the onset or progression of tinnitus; however, the precise molecular mechanisms of tinnitus are not well understood and the contribution of genetic and epigenetic factors remains unknown. Human genetic studies could enable the identification of novel molecular therapeutic targets, possibly leading to the development of novel pharmaceutical therapeutics. In this article, we briefly discuss the available evidence for a role of genetics in tinnitus and consider potential hurdles in designing genetic studies for tinnitus. Since multiple diseases have tinnitus as a symptom and the supporting genetic evidence is sparse, we propose various strategies to investigate the genetic underpinnings of tinnitus, first by showing evidence of heritability using concordance studies in twins, and second by improving patient selection according to phenotype and/or etiology in order to control potential biases and optimize genetic data output. The increased knowledge resulting from this endeavor could ultimately improve the drug development process and lead to the preventive or curative treatment of tinnitus. Frontiers Media S.A. 2016-08-19 /pmc/articles/PMC4990555/ /pubmed/27594824 http://dx.doi.org/10.3389/fnins.2016.00377 Text en Copyright © 2016 Lopez-Escamez, Bibas, Cima, Van de Heyning, Knipper, Mazurek, Szczepek and Cederroth. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Lopez-Escamez, Jose A.
Bibas, Thanos
Cima, Rilana F. F.
Van de Heyning, Paul
Knipper, Marlies
Mazurek, Birgit
Szczepek, Agnieszka J.
Cederroth, Christopher R.
Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development
title Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development
title_full Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development
title_fullStr Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development
title_full_unstemmed Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development
title_short Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development
title_sort genetics of tinnitus: an emerging area for molecular diagnosis and drug development
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990555/
https://www.ncbi.nlm.nih.gov/pubmed/27594824
http://dx.doi.org/10.3389/fnins.2016.00377
work_keys_str_mv AT lopezescamezjosea geneticsoftinnitusanemergingareaformoleculardiagnosisanddrugdevelopment
AT bibasthanos geneticsoftinnitusanemergingareaformoleculardiagnosisanddrugdevelopment
AT cimarilanaff geneticsoftinnitusanemergingareaformoleculardiagnosisanddrugdevelopment
AT vandeheyningpaul geneticsoftinnitusanemergingareaformoleculardiagnosisanddrugdevelopment
AT knippermarlies geneticsoftinnitusanemergingareaformoleculardiagnosisanddrugdevelopment
AT mazurekbirgit geneticsoftinnitusanemergingareaformoleculardiagnosisanddrugdevelopment
AT szczepekagnieszkaj geneticsoftinnitusanemergingareaformoleculardiagnosisanddrugdevelopment
AT cederrothchristopherr geneticsoftinnitusanemergingareaformoleculardiagnosisanddrugdevelopment