Related Experiment Video
Updated: Jan 26, 2026

03:49
Author Spotlight: Optimizing EAS with Long Electrodes for Enhanced Cochlear Coverage and Hearing Preservation
Published on: October 11, 2024
1.2K
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Neil J Ingham1,2, Selina A Pearson1, Valerie E Vancollie1
1Wellcome Trust Sanger Institute, Hinxton, United Kingdom.
Plos Biology
|April 12, 2019
Summary
This study identified 38 new genes linked to adult-onset hearing loss through mouse genetic screening. These findings reveal novel molecular pathways for progressive hearing loss and potential therapeutic targets.
Area of Science:
- Genetics
- Neuroscience
- Otolaryngology
Background:
- Adult-onset hearing loss is prevalent, yet its molecular causes remain largely unknown, hindering therapeutic development.
- Understanding the genetic basis of hearing loss is crucial for developing effective treatments.
Purpose of the Study:
- To identify novel genes and molecular pathways involved in adult-onset hearing loss using a genetic screening approach.
- To uncover new therapeutic targets for hearing loss by investigating genetic heterogeneity and progressive auditory pathologies.
Main Methods:
- A large-scale genetic screen of mouse mutants was conducted.
- Auditory brainstem response (ABR) testing was used to assess hearing function.
- Analysis of 1,211 genes identified those associated with elevated hearing thresholds.
Main Results:
- Thirty-eight previously unrecognized genes were found to be associated with hearing loss.
- A diverse range of auditory pathologies were observed in the screened mouse mutants.
- New molecular pathways contributing to progressive hearing loss were identified, with some genes linked to human hearing variation and childhood deafness (SPNS2).
Conclusions:
- The genetic screening revealed significant heterogeneity in the genetic causes of hearing loss.
- The identified molecular pathways offer promising new avenues for therapeutic interventions in hearing loss.
- This research advances the understanding of hearing maintenance and provides a foundation for future otologic therapies.
Related Concept Videos
Hearing
56.8K
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.
56.8K
Loss of Tumor Suppressor Gene Functions
5.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.9K
Line Loss
535
The different configurations of source-load connections include wye (star) and delta connections. The relationship between line and phase voltages and currents varies depending on the configuration. When the source is supplying power, it is transmitted through the wires to the load, and during this transmission, some power is absorbed by the wires, leading to line loss.
Line loss impacts power delivery efficiency in a balanced three-phase circuit. The symmetry in such a circuit simplifies the...
Line loss impacts power delivery efficiency in a balanced three-phase circuit. The symmetry in such a circuit simplifies the...
535
Multiple Allele Traits
38.0K
The Concept of Multiple Allelism
38.0K
Reducing Line Loss
372
In a three-phase circuit, line loss is an indicator of energy dissipated as heat due to the resistance of transmission lines. To address this, incorporating transformers into the system—a step-up transformer at the source and a step-down transformer at the load—is a strategic solution. Two three-phase transformers are introduced to improve this.
With a step-up transformer at the source, the voltage is increased, thereby reducing the current in the transmission lines since power loss in...
With a step-up transformer at the source, the voltage is increased, thereby reducing the current in the transmission lines since power loss in...
372
Major Losses in Pipes
2.0K
When a fluid flows through a pipe, it experiences energy losses due to frictional resistance along the pipe walls, known as major losses. These energy losses result in a pressure drop, which varies based on the flow conditions — whether laminar or turbulent — and the specific physical properties of the fluid and pipe.
Fluid flow can be classified as laminar or turbulent, primarily based on the Reynolds number. This dimensionless number reflects the relative influence of inertial to viscous...
Fluid flow can be classified as laminar or turbulent, primarily based on the Reynolds number. This dimensionless number reflects the relative influence of inertial to viscous...
2.0K

