Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Jefferson scientists identify gene defect leading to abnormal skin development and cancer

04.10.2005


Researchers at Jefferson Medical College and at the Wadsworth Center in New York have identified a gene defect in mice resulting in a range of abnormalities, from cyclical hair loss and skin cancer to severe problems in normal skin development. The work may lead to improved treatments for skin injuries, including burns, and might have implications for diseases such as eczema and psoriasis, as well as certain cancers.



Linda Siracusa, Ph.D., associate professor of microbiology and immunology at Jefferson Medical College of Thomas Jefferson University in Philadelphia and at Jefferson’s Kimmel Cancer Center and Bruce Herron, Ph.D., a research scientist at the Wadsworth Center of the New York State Department of Health and assistant professor in the Department of Biomedical Sciences at the State University of New York at Albany, wanted to identify the nature of an inherited genetic mutation in mice called repeated epilation (Er), and pinpoint the gene itself.

Mice carrying one copy of the mutation have cyclical hair loss, and develop skin cancer late in life. Mice carrying two copies have severe defects in skin development related to keratinocyte (skin cell) differentiation. At birth, they lack external openings – the nose and mouth are covered by skin, for example – and live only a brief time.


Previous studies had pinned the gene’s location to mouse chromosome 4. Reporting October 2, 2005 in the journal Nature Genetics, the research team describes how it subsequently narrowed the region on chromosome 4 to about 800 megabases, eventually uncovering a mutation in a gene, Stratifin. Stratifin is highly expressed in the epidermis and plays a role in preventing human cancers. The researchers identified an "insertion" mutation in the gene that resulted in a damaged Stratifin protein.

"We looked at a number of inbred strains and only saw a mutation in the Stratifin gene in mice with the Er features," Dr. Herron says. When the Er mutation was "rescued" by providing a molecular carrier containing normal genetic regions of chromosome 4, the mice had normal hair development.

"We were interested in genes affecting susceptibility to the development of skin cancer, and the Er mice provided a good model," says Dr. Siracusa. The initial goal of the work was to find out what gene was responsible for the Er mutation.

"We think the mutation is potentially another player in what could be a relatively novel pathway affecting the development of hair and skin," says Dr. Herron. The Stratifin gene is present in humans, and comparable genetic defects are under investigation.

Drs. Siracusa and Herron’s laboratories are continuing to collaborate to understand the mechanisms behind the gene defect’s effects on skin development, hair growth and tumor development.

The researchers note that Stratifin is turned off in many cancers, suggesting it may protect cells from becoming cancerous. The Stratifin gene could help lead to a better understanding of the susceptibility to and development of epithelial cancers such as those of the breast, prostate, skin, lung, ovary and colon, and could predict a person’s response to cancer therapy. Further studies may also lead to applications for hair loss treatment.

Steve Benowitz | EurekAlert!
Further information:
http://www.jefferson.edu

More articles from Life Sciences:

nachricht Are there sustainable solutions in dealing with dwindling phosphorus resources?
16.10.2017 | Leibniz-Institut für Nutzierbiologie (FBN)

nachricht Strange undertakings: ant queens bury dead to prevent disease
13.10.2017 | Institute of Science and Technology Austria

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

Im Focus: New nanomaterial can extract hydrogen fuel from seawater

Hybrid material converts more sunlight and can weather seawater's harsh conditions

It's possible to produce hydrogen to power fuel cells by extracting the gas from seawater, but the electricity required to do it makes the process costly. UCF...

Im Focus: Small collisions make big impact on Mercury's thin atmosphere

Mercury, our smallest planetary neighbor, has very little to call an atmosphere, but it does have a strange weather pattern: morning micro-meteor showers.

Recent modeling along with previously published results from NASA's MESSENGER spacecraft -- short for Mercury Surface, Space Environment, Geochemistry and...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

Conference Week RRR2017 on Renewable Resources from Wet and Rewetted Peatlands

28.09.2017 | Event News

 
Latest News

A single photon reveals quantum entanglement of 16 million atoms

16.10.2017 | Physics and Astronomy

The melting ice makes the sea around Greenland less saline

16.10.2017 | Earth Sciences

On the generation of solar spicules and Alfvenic waves

16.10.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>