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Related Concept Videos

Auditory Pathway01:15

Auditory Pathway

Auditory pathways constitute the complex neural circuits responsible for transmitting and interpreting auditory information from the peripheral auditory system to the brain. Sound waves are initially captured by the outer ear, funneled through the ear canal, and reach the tympanic membrane (eardrum). These vibrations are transmitted via the middle ear's ossicles to the inner ear's cochlea.
When viewed cross-sectionally, the cochlea reveals the scala vestibuli and scala tympani flanking the...
Hearing01:31

Hearing

When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
Anatomy of the Ear01:16

Anatomy of the Ear

Auditory sensation, commonly called hearing, involves the transformation of sonic waves into neural impulses facilitated by the structures of the auditory organ. The prominent, flesh-like structure on the side of the head, called the auricle, directs sound waves towards the auditory canal. The auricle is often mislabeled as the pinna, a term more aligned with mobile structures like a feline's external ear. The auditory canal penetrates the cranium via the external auditory meatus of the...
The Cochlea01:13

The Cochlea

The cochlea is a coiled structure in the inner ear that contains hair cells—the sensory receptors of the auditory system. Sound waves are transmitted to the cochlea by small bones attached to the eardrum called the ossicles, which vibrate the oval window that leads to the inner ear. This causes fluid in the chambers of the cochlea to move, vibrating the basilar membrane.
Hair Cells01:22

Hair Cells

Hair cells are the sensory receptors of the auditory system—they transduce mechanical sound waves into electrical energy that the nervous system can understand. Hair cells are located in the organ of Corti within the cochlea of the inner ear, between the basilar and tectorial membranes. The actual sensory receptors are called inner hair cells. The outer hair cells serve other functions, such as sound amplification in the cochlea, and are not discussed in detail here.
Auditory Perception01:17

Auditory Perception

The auditory system is essential for sound perception, utilizing various critical structures. When sound waves enter the outer ear, they travel through the ear canal and cause the eardrum to vibrate. These vibrations are then transmitted to the middle ear, where three tiny bones – the malleus, incus, and stapes – amplify the sound. This amplification is crucial, as it ensures that the sound vibrations are strong enough to be conveyed to the inner ear. These vibrations then reach the cochlea, a...

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Related Experiment Video

Updated: May 14, 2026

Dextran Labeling and Uptake in Live and Functional Murine Cochlear Hair Cells
05:55

Dextran Labeling and Uptake in Live and Functional Murine Cochlear Hair Cells

Published on: February 8, 2020

The LINC complex is essential for hearing.

Henning F Horn1, Zippora Brownstein, Danielle R Lenz

  • 1Institute of Medical Biology, A STAR, Singapore.

The Journal of Clinical Investigation
|January 26, 2013
PubMed
Summary
This summary is machine-generated.

A mutation in the SYNE4 gene causes progressive hearing loss by disrupting the LINC complex in inner ear hair cells. This highlights the critical role of nuclear positioning in maintaining hearing function.

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Last Updated: May 14, 2026

Dextran Labeling and Uptake in Live and Functional Murine Cochlear Hair Cells
05:55

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Published on: February 8, 2020

Cochlear Surface Preparation in the Adult Mouse
09:51

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Published on: November 6, 2019

Isolation and Culture of Primary Cochlear Hair Cells from Neonatal Mice
06:07

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Published on: September 15, 2023

Area of Science:

  • Genetics
  • Otolaryngology
  • Cell Biology

Background:

  • Hereditary hearing loss is a common sensory deficit.
  • The SYNE4 gene, encoding nesprin-4 (NESP4), was not previously linked to hearing impairment.
  • The linker of nucleoskeleton and cytoskeleton (LINC) complex connects the nuclear envelope's inner and outer membranes.

Purpose of the Study:

  • To investigate the genetic cause of progressive high-frequency hearing loss in two families.
  • To determine the role of SYNE4 and its protein product, nesprin-4 (NESP4), in inner ear hair cell function and hearing.
  • To elucidate the function of the LINC complex in the maintenance of hearing.

Main Methods:

  • Genetic analysis of affected families to identify causative mutations.
  • Functional studies of the SYNE4 mutation and its effect on NESP4 protein localization.
  • Generation and evaluation of Nesp4 and Sun1 knockout mouse models for auditory and hair cell phenotypes.

Main Results:

  • A homozygous protein-truncating mutation in SYNE4 (c.228delAT) was identified as the cause of hearing loss in the families.
  • The mutated NESP4 protein failed to localize to the outer nuclear membrane.
  • Nesp4-/- and Sun1-/- mice exhibited degeneration of outer hair cells (OHCs) and progressive hearing loss, with mislocalized nuclei in OHCs.

Conclusions:

  • The LINC complex, involving NESP4 and SUN1, is essential for the viability and normal morphology of OHCs.
  • Proper basal localization of OHC nuclei is critical for maintaining hearing function.
  • SYNE4 mutations represent a novel genetic cause of hereditary hearing loss.