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. 2023 Apr:32:100632.
doi: 10.1016/j.cophys.2023.100632. Epub 2023 Jan 25.

Mechanoelectrical transduction-related genetic forms of hearing loss

Jinsei Jung  1   2 , Ulrich Müller  1
Affiliations

Mechanoelectrical transduction-related genetic forms of hearing loss

Jinsei Jung et al. Curr Opin Physiol. 2023 Apr.

Abstract

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.

Keywords: auditory; deafness; hair cell; hearing loss; mechanotransduction.

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Figures

Figure 1:
Figure 1:
Diagram highlighting protein localization within stereocilia of hair cells. The diagram shows a pair of stereocilia of a hair cell highlighting the subcellular localization of various proteins that are implicated in the molecular pathogenesis of hearing loss.
See this image and copyright information in PMC

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