Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Wbp2 is a novel deafness gene

09.02.2016

Researchers at King’s College London and the Wellcome Trust Sanger Institute in the United Kingdom have for the first time demonstrated a direct link between the Wbp2 gene and progressive hearing loss. The scientists report that the loss of Wbp2 expression leads to progressive high-frequency hearing loss in mouse as well as in two clinical cases of children with deafness with no other obvious features. The results are published in EMBO Molecular Medicine.

The scientists have shown that hearing impairment is linked to hormonal signalling rather than to hair cell degeneration. Wbp2 is known as a transcriptional co-activator for estrogen receptor Esr1 and progesterone receptor Pgr.


Scanning electron microscopy images of outer (OHC) and inner (IHC) hair cells of the ear of a Wbp2-deficient mouse.

EMBO (CC BY 4.0). Adapted from http://embomolmed.embopress.org/cgi/doi/10.15252/emmm.201505523

The loss of Wbp2 causes not only progressive high frequency hearing loss, but also results in reduced expression of Esr1, Esr2 and Pgr in the cochlea – a part of the inner ear. Understanding the estrogen-sensitive molecular networks specific to hearing offers an unprecedented putative new target for the control of the estrogen signalling pathway in the auditory system that could prevent or reverse progressive hearing loss.

“Our study demonstrates that hearing thresholds are normal in young Wbp2 mutant mice, but are raised at high frequencies by four weeks of age,” says EMBO Member Karen Steel of King’s College London, the senior author of the study. “More importantly, we also demonstrate that Wbp2 is crucial for hearing in humans. We found two children affected by severe to profound deafness, each carrying two variants of the WBP2 gene.”

Progressive hearing loss is a very common disease. However, very little is known about its molecular mechanisms. As a result, targets for medical therapies have been lacking. It has been known that estrogen signalling protects against noise-induced hearing loss. However, estrogen-based therapies have not been generally considered for hearing impairment due to their widespread effects. This study opens up the Wbp2 pathway as a new route to therapeutic approaches that more specifically target the inner ear.

Wbp2 was found to be involved in progressive hearing loss during a large-scale screen for hearing defects in newly-generated targeted mouse mutants. The finding of a new gene involved in human deafness following the initial discovery of its role in the mouse also emphasizes the value of mouse genetics research for better understanding human disease.

Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.

Annalisa Buniello, Neil J Ingham, Morag A Lewis, Andreea C Huma, Raquel Martinez-Vega, Isabel Varela-Nieto, Gema Vizcay-Barrena, Roland A Fleck, Oliver Houston, Tanaya Bardhan, Stuart L Johnson, Jacqueline K White, Huijun Yuan, Walter Marcotti, Karen P Steel

Read the paper: http://embomolmed.embopress.org/cgi/doi/10.15252/emmm.201505523

doi: 10.15252/emmm.201505523

Further information on EMBO Molecular Medicine is available at www.embomolmed.embopress.org

Media Contacts
Yvonne Kaul
Communications Officer
yvonne.kaul@embo.org

Céline Carret
Editor, EMBO Molecular Medicine
Tel: +49 6221 8891 411
celine.carret@embo.org

About EMBO
EMBO is an organization of more than 1700 leading researchers that promotes excellence in the life sciences. The major goals of the organization are to support talented researchers at all stages of their careers, stimulate the exchange of scientific information, and help build a European research environment where scientists can achieve their best work.

EMBO helps young scientists to advance their research, promote their international reputations and ensure their mobility. Courses, workshops, conferences and scientific journals disseminate the latest research and offer training in techniques to maintain high standards of excellence in research practice. EMBO helps to shape science and research policy by seeking input and feedback from our community and by following closely the trends in science in Europe. 
For more information: www.embo.org

Weitere Informationen:

http://www.embo.org/news/research-news/research-news-2016/wbp2-is-a-novel-gene-i...

Yvonne Kaul | idw - Informationsdienst Wissenschaft

More articles from Life Sciences:

nachricht New photocatalyst speeds up the conversion of carbon dioxide into chemical resources
29.05.2017 | DGIST (Daegu Gyeongbuk Institute of Science and Technology)

nachricht Copper hydroxide nanoparticles provide protection against toxic oxygen radicals in cigarette smoke
29.05.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Strathclyde-led research develops world's highest gain high-power laser amplifier

The world's highest gain high power laser amplifier - by many orders of magnitude - has been developed in research led at the University of Strathclyde.

The researchers demonstrated the feasibility of using plasma to amplify short laser pulses of picojoule-level energy up to 100 millijoules, which is a 'gain'...

Im Focus: Can the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

New insights into the ancestors of all complex life

29.05.2017 | Earth Sciences

New photocatalyst speeds up the conversion of carbon dioxide into chemical resources

29.05.2017 | Life Sciences

NASA's SDO sees partial eclipse in space

29.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>