Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Ten-year study leads researchers to psoriasis genes

10.11.2003


Other genes, environmental factors also likely to contribute to prevalent skin disorder



After a decade of searching, researchers have identified three genes linked to psoriasis, a potentially debilitating and disfiguring skin condition characterized by burning or itching patches of raised red skin.

The project’s leader, Anne Bowcock, Ph.D., professor of genetics, of medicine and of pediatrics at Washington University School of Medicine in St. Louis, says the results could help scientists understand the molecular details of what happens in psoriasis and improve ways to treat the condition. The study will be published online by Nature Genetics on Nov. 9.


"Now we can look at the functional roles of these genes -- how they normally keep the skin and the immune system from damaging healthy tissue with their defensive mechanisms," Bowcock explains. "These results are going to help us find answers for some very important questions, including how changes in cellular mechanisms cause the disease and whether we can predict who is going to develop the disease early on."

Psoriasis is a complex trait -- a disorder linked to several genes and environmental factors. It comes in a variety of forms, including psoriatic arthritis, which causes additional arthritis-like symptoms. The condition can be severely disabling and afflicts up to 30 percent of all psoriasis patients.

The protagonist of The Singing Detective, a new movie currently in limited release in New York and Los Angeles, suffers from psoriatic arthritis. The film, which stars Robert Downey Jr. and Mel Gibson, is based on a play and television series by the late British author Dennis Potter, who suffered from the disease in real life.

According to the National Psoriasis Foundation, 4.5 million Americans have been diagnosed with the disorder and it afflicts about 2 percent of people in Western nations.

Scientists strongly suspect the immune system plays a major role in the disorders.

"We think the immune system may be overactive in some way that leads to damage to healthy tissue," Bowcock says. "Or the disease may be turning on a class of immune cells that can’t be turned off properly. This could include immune cells in the skin."

Many psoriasis patients also have other disorders wholly or partially caused by immune system attacks on healthy tissue, including diabetes, lupus and Crohn’s disease. A variety of environmental factors, including stress and infection by the streptococcus bacteria or HIV, are associated with the onset of psoriasis symptoms.

"HIV is becoming a serious trigger factor," Bowcock says. "In fact, psoriasis was very rare in Africa, but is now an additional complication in some of the HIV patients in Africa."

Bowcock is the director of the National Psoriasis Tissue Bank, which is located at the School of Medicine. To find the genes, she and her colleagues at Baylor University, the University of Washington in Seattle, Rockefeller University and the University of California in San Francisco analyzed DNA from 242 Northern European families with at least two affected individuals.

The search took a decade because they were looking for very subtle effects. The genes involved -- SLC9A3R1, NAT9 and RAPTOR -- didn’t change much. Furthermore, researchers found that the forms of the genes that increased risk of psoriasis were present in about 37 percent of a group of people not suffering from the disease.

"Since only 2 percent of the general population develops psoriasis, there are clearly many other genes involved in determining psoriasis risk, and the genes we identified are low-risk," Bowcock says. "But it’s encouraging because they’re not genes we would have predicted to be involved in psoriasis, and now that we’ve found them the connections are starting to make sense."

Bowcock and her colleagues have found early evidence suggesting the genes may affect the development of immune system cells called T cells. Two of the genes, SLC9A3R1 and NAT9, under certain conditions, may be regulated by RUNX1, a gene involved in the development of blood cells including those of the immune system.

Bowcock notes that many of the new therapies for psoriasis are directed at reducing the activity of the immune system.

"It’s therefore tantalizing that RUNX has been implicated in psoriasis, because RUNX is produced by cells of the immune system and thought to have a regulatory role in that system," Bowcock says. "In addition, the skin, like the immune system, has an important role in protecting us from infectious organisms. That role is poorly understood, as are the reasons why psoriasis affects the skin. This gene may help us begin to fill in some of those gaps."

Bowcock says she is intrigued by the possibility that the genes may be connected to other autoimmune diseases. The skin condition eczema, for example, has been linked to the same region of chromosome 17 where the three psoriasis genes were found.

"We’re just putting together the first pieces of a big puzzle," Bowcock says. "If making progress in understanding psoriasis also leads us to new insights into other autoimmune diseases, that would be a double benefit."

In addition to probing the effects of these three genes and continuing the hunt for others, Bowcock and her colleagues want to see if they can use already identified genes to create a model of psoriasis in mice or other animals.


Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffernan M, Wright Daw JA, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with psoriasis susceptibility. Nature Genetics, early online edition Nov. 9, 2003.

Funding from the National Institutes of Health and the National Psoriasis Foundation.

The full-time and volunteer faculty of Washington University School of Medicine are the physicians and surgeons of Barnes-Jewish and St. Louis Children’s hospitals. The School of Medicine is one of the leading medical research, teaching and patient-care institutions in the nation. Through its affiliations with Barnes-Jewish and St. Louis Children’s hospitals, the School of Medicine is linked to BJC HealthCare.

Michael C. Purdy | EurekAlert!
Further information:
http://medinfo.wustl.edu/

More articles from Studies and Analyses:

nachricht Smart Data Transformation – Surfing the Big Wave
02.12.2016 | Fraunhofer-Institut für Angewandte Informationstechnik FIT

nachricht Climate change could outpace EPA Lake Champlain protections
18.11.2016 | University of Vermont

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

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

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

Im Focus: Molecules change shape when wet

Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water

In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...

Im Focus: Fraunhofer ISE Develops Highly Compact, High Frequency DC/DC Converter for Aviation

The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.

Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

UTSA study describes new minimally invasive device to treat cancer and other illnesses

02.12.2016 | Medical Engineering

Plasma-zapping process could yield trans fat-free soybean oil product

02.12.2016 | Agricultural and Forestry Science

What do Netflix, Google and planetary systems have in common?

02.12.2016 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>