Their work appears in the journal Nature Genetics.
Sjögren's syndrome is an autoimmune disease in which the immune system becomes confused and turns against the body's moisture-producing glands, damaging the ability to produce saliva or tears. Common symptoms include dry eyes and dry mouth, but the disease can also affect other organs and cause a variety of additional symptoms including severe fatigue, arthritis and memory problems.
The Sjögren's Syndrome Foundation estimates as many as 4 million Americans have the disease. Despite outnumbering patients with lupus, multiple sclerosis and other more commonly recognized autoimmune diseases, research into Sjögren's has been slow, said OMRF scientist Kathy Sivils, Ph.D.
"One problem has always been identifying true Sjögren's patients and collecting enough samples, partly because there's still disagreement on the criteria for the disease and clinical testing is not easy," she said. "So much work goes into classifying patients that it makes building collections of samples more difficult."
This research required Sjögren's researchers from around the world putting together about 2,000 patient samples, which were tested against more than 7,000 healthy controls.
The results were exactly what the researchers were hoping to see. In addition to the previously known HLA gene related to the disease, the group was able to identify six new Sjögren's genes and begin working to understand their functions.
"This is a first step," said OMRF scientist Christopher Lessard, Ph.D., lead author of the paper. "Now that we've identified these genes, we can dig down and start to understand how these genetic variants alter normal functions of the immune system."
So far, the international team of researchers led by Sivils, called the Sjögren's Genetics Network, or SGENE, has found these disease-related genes:
IRF5 and STAT4 which are "master regulators" that activate cells during an immune response
CXCR5 directs traffic for lymphocytes and may help explain why immune cells target moisture-producing glands.
TNIP1 is a binding partner with another autoimmune disease-related gene, TNFAIP3, which "cuts the brakes" on the immune system.
IL12A is one subunit of a protein that acts as a messenger between cells and modulates immune responses.
BLK is a B-cell gene which might account for increased numbers of antibodies.
Currently, the only treatment for Sjögren's syndrome is to target symptoms. Patients with chronic dry mouth use artificial saliva to chew and swallow. Dry eyes, which sometimes are difficult to open or blink, require artificial tears to function.
"I know it's a long ways off, but I hope these discoveries will open the door for researchers to find therapeutics that work at the genetic level to stop the disease," she said.
Researchers from across the U.S. and from France, the United Kingdom, Germany, Colombia, Australia, Norway and Sweden contributed to the research. OMRF scientists involved in the paper include Darise Farris, Ph.D., Patrick Gaffney, M.D., Judith James, M.D., Ph.D., Courtney Montgomery, Ph.D., Robert Scofield, M.D., and Jonathan Wren, Ph.D.
Funding for the project was provided by grants No. P50 AR0608040 from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, 5R01 DE015223, 1R01 DE018209-02 and 5R01 DE018209 from the National Institute of Dental and Craniofacial Research, 5U19 AI082714 from the National Institute of Allergy and Infectious Diseases, part of the National Institutes of Health, and Sjögren's Syndrome Foundation.
Photos of Drs. Sivils and Lessard are available for download here: http://www.omrf.org/newsgallery/sjogrensgenes
OMRF is an independent, nonprofit biomedical research institute dedicated to understanding and developing more effective treatments for human diseases. Its scientists focus on such critical research areas as cancer, Sjögren's syndrome, lupus and cardiovascular disease.
Greg Elwell | EurekAlert!
Researchers develop eco-friendly, 4-in-1 catalyst
25.04.2017 | Brown University
Transfecting cells gently – the LZH presents a GNOME prototype at the Labvolution 2017
25.04.2017 | Laser Zentrum Hannover e.V.
More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.
Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...
Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.
"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...
The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.
Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...
The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...
Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.
Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...
20.04.2017 | Event News
18.04.2017 | Event News
03.04.2017 | Event News
25.04.2017 | Physics and Astronomy
25.04.2017 | Materials Sciences
25.04.2017 | Life Sciences