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 Zap! Graphene is bad news for bacteria
23.05.2017 | Rice University

nachricht Discovery of an alga's 'dictionary of genes' could lead to advances in biofuels, medicine
23.05.2017 | University of California - Los Angeles

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

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...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

Im Focus: Using graphene to create quantum bits

In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.

In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...

Im Focus: Bacteria harness the lotus effect to protect themselves

Biofilms: Researchers find the causes of water-repelling properties

Dental plaque and the viscous brown slime in drainpipes are two familiar examples of bacterial biofilms. Removing such bacterial depositions from surfaces is...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

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

Innovation 4.0: Shaping a humane fourth industrial revolution

17.05.2017 | Event News

 
Latest News

Scientists propose synestia, a new type of planetary object

23.05.2017 | Physics and Astronomy

Zap! Graphene is bad news for bacteria

23.05.2017 | Life Sciences

Medical gamma-ray camera is now palm-sized

23.05.2017 | Medical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>