Six New Sjögren’s Syndrome Genes Identified

DNAAn international coalition of researchers, called the Sjögren’s Genetics Network (SGENE), announced a breakthrough finding last month that is providing hope to Sjögren’s patients worldwide. This team, led by scientists at the Oklahoma Medical Research Foundation, has identified six new genes specific to Sjögren’s syndrome. It is hoped that this new discovery will lead to treatments targeting the underlying disease, not just the symptoms.

Sjögren’s syndrome is an autoimmune disease in which the body’s defense mechanisms attack moisture-producing glands, including the eyes and mouth. The disease can also affect other major organ systems and cause debilitating fatigue and memory problems. Previously difficult to diagnose and treat, new research is leading the way toward both improved diagnosis and identification of underlying causes for this serious illness that impacts the lives of more than 4 million people worldwide. Early diagnosis and treatment are essential to preventing irreversible organ damage and long-term complications.

At present, medical treatments for Sjögren’s syndrome involve alleviating patients’ symptoms and preventing complications. Over-the-counter and prescription medications can address dry eye and dry mouth symptoms.  Immunospressing drugs may be used for more complex organ system involvement. Many patients report that these treatments are sometimes not enough to allow them to work or pursue leisure activities they previously enjoyed. A 2010 BFS patient survey revealed that less than 15% of Sjögren’s sufferers found sufficient relief from ocular symptoms with standard treatments of lubricating drops, medicated drops/ointments, or punctal plugs.  BostonSight™ PROSE treatment achieved an 85% rate of significant success in alleviating ocular symptoms.

The Sjögren’s Genetics Network researchers initially faced a daunting challenge in identifying a study group in order to begin their genome-mapping research. Due to the lack of consensus on diagnostic criteria and the difficulty accurately diagnosing patients, scientists put in a great deal of upfront effort and international collaboration in order to find a valid Sjögren’s test group and gather samples. Researchers from around the world were finally able to identify a group of 2,000 to sample against a control group of 7,000.

The results of this genome-mapping project have been published ahead of print in the journal Nature Genetics. The research team identified these six Sjögren’s-specific genes:

  • IRF5 and STAT4 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.

This discovery is just the beginning of understanding how these genetic variants change the functioning of the immune system. Dr. Kathy Sivils, lead researcher, noted that she is hopeful that these findings will lead to new treatments for Sjögren’s syndrome at the genetic level that might stop the disease. She cautioned that such discoveries are likely far in the future.

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