Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
Unrenewable Cells00:50

Unrenewable Cells

In humans, the photoreceptor cells of the eye and sensory hair cells of the ear lack stem cells. These cells are thus unrenewable and cannot be replaced when they are damaged or destroyed.
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of their outer...
ATP Synthase: Structure01:18

ATP Synthase: Structure

ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
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 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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Identifying patient-centered outcomes in progressive familial intrahepatic cholestasis: Results from IMPACT.

Journal of pediatric gastroenterology and nutrition·2026
Same author

Editorial Expression of Concern: The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes.

Nature·2026
Same author

From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·2026
Same author

Behavioral versus electrophysiological cortical auditory change detection in pure tones and spectral ripples.

The Journal of the Acoustical Society of America·2025
Same author

Exploring the impact of graded alcohol use on atherogenic lipid profiles among Latinos with underlying chronic liver disease.

Alcohol, clinical & experimental research·2025
Same author

Genetic association analysis and frequency of NUDT15*3 with thiopurine-induced myelosuppression in patients with inflammatory bowel disease in a large Dutch cohort.

The pharmacogenomics journal·2024

Related Experiment Video

Updated: Jun 22, 2026

Dissection of Adult Mouse Utricle and Adenovirus-mediated Supporting-cell Infection
11:13

Dissection of Adult Mouse Utricle and Adenovirus-mediated Supporting-cell Infection

Published on: March 28, 2012

ATP8B1 is essential for maintaining normal hearing.

Janneke M Stapelbroek1, Theo A Peters, Denis H A van Beurden

  • 1Department of Pediatric Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands. jstapelb@umcutrecht.nl

Proceedings of the National Academy of Sciences of the United States of America
|May 30, 2009
PubMed
Summary
This summary is machine-generated.

ATP8B1 deficiency, linked to hearing loss, causes progressive degeneration of cochlear hair cells. This highlights the critical role of ATP8B1 in auditory function and hair cell integrity.

More Related Videos

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

Trans-Tympanic Drug Delivery for the Treatment of Ototoxicity
09:52

Trans-Tympanic Drug Delivery for the Treatment of Ototoxicity

Published on: March 16, 2018

Related Experiment Videos

Last Updated: Jun 22, 2026

Dissection of Adult Mouse Utricle and Adenovirus-mediated Supporting-cell Infection
11:13

Dissection of Adult Mouse Utricle and Adenovirus-mediated Supporting-cell Infection

Published on: March 28, 2012

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

Trans-Tympanic Drug Delivery for the Treatment of Ototoxicity
09:52

Trans-Tympanic Drug Delivery for the Treatment of Ototoxicity

Published on: March 16, 2018

Area of Science:

  • Genetics
  • Otolaryngology
  • Cell Biology

Background:

  • ATP8B1 deficiency, caused by mutations in the ATP8B1 gene, primarily leads to cholestasis but can present with extrahepatic symptoms.
  • Reduced hearing capability has been anecdotally reported in patients with ATP8B1 deficiency.

Purpose of the Study:

  • To investigate the role of ATP8B1 in auditory function.
  • To determine the impact of ATP8B1 deficiency on cochlear hair cells.

Main Methods:

  • Analysis of patients with ATP8B1 deficiency.
  • Utilizing Atp8b1(G308V/G308V) mutant mice models.
  • Localization studies of ATP8B1 within cochlear hair cells.

Main Results:

  • ATP8B1/Atp8b1 deficiency in patients and mutant mice results in hearing loss.
  • Progressive degeneration of cochlear hair cells is observed in affected individuals and mice.
  • Atp8b1 is specifically localized to the stereocilia of cochlear hair cells.

Conclusions:

  • ATP8B1 is crucial for the mechanosensory function and integrity of cochlear hair cells.
  • ATP8B1 activity may be essential for maintaining lipid asymmetry in stereocilia membranes.
  • ATP8B1 deficiency presents a novel cause of hearing loss associated with cochlear hair cell degeneration.