Mechanoelectrical transduction-related genetic forms of hearing loss.
auditory
deafness
hair cell
hearing loss
mechanotransduction
Journal
Current opinion in physiology
ISSN: 2468-8673
Titre abrégé: Curr Opin Physiol
Pays: England
ID NLM: 101715200
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
pmc-release:
01
04
2024
entrez:
20
3
2023
pubmed:
21
3
2023
medline:
21
3
2023
Statut:
ppublish
Résumé
Hair cells of the mammalian cochlea are specialized mechanosensory cells that convert mechanical stimuli into electrical signals to initiate the neuronal responses that lead to the perception of sound. The mechanoelectrical transduction (MET) machinery of cochlear hair cells is a multimeric protein complex that consists of the pore forming subunits of the MET channel and several essential accessory subunits that are crucial to regulate channel function and render the channel mechanically sensitive. Mutations have been discovered in the genes that encode all known components of the MET machinery. These mutations cause hearing loss with or without vestibular dysfunction. Some mutations also affect other tissues such as the retina. In this brief review, we will summarize gene mutations that affect the MET machinery of hair cells and how the study of the affected genes has illuminated our understanding of the physiological role of the encoded proteins.
Identifiants
pubmed: 36936795
doi: 10.1016/j.cophys.2023.100632
pmc: PMC10022594
mid: NIHMS1870125
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : NIDCD NIH HHS
ID : R01 DC005965
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC019514
Pays : United States
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