OMRF scientist discovers Sjögren’s gene

Published: Wednesday, August 23, 2017 By: Sarah Terry-Cobo Source: The Journal Record

Kathy Sivils discovered a gene important to a not-well-known autoimmune disease.

The scientist at the Oklahoma Medical Research Foundation and her colleagues found the first gene positively associated with Sjögren’s syndrome, a condition that leads to chronic dry eyes and dry mouth. The gene marker will help scientists develop diagnostic tests and will likely lead researchers to develop therapies.

“You really have to understand the cause of the disease to improve the diagnosis,” she said. “It takes six to 10 years to get a correct diagnosis.”

But it could be years before Sivils’ research can be developed into commercial applications. It took the better part of a decade, about $5 million in grants, and contributions from 18 other colleagues around the world to find the single gene associated with Sjögren’s, she said.

Physicians treat patients’ symptoms now because there are no existing cures. Patients generally rely on over-the-counter substitutes for tears and saliva to soothe dry eyes and dry mouths.

It’s more than just no spit or tears for some people, particularly those whose salivary glands stop working. One local patient has more than $20,000 in dental bills because the person’s teeth are crumbling, due to inadequate saliva production. Dental insurance doesn’t cover the issues Sjögren’s patients have.

The disease is estimated to create a cumulative $35 billion burden for patients, including for treatment costs and for diagnostic delays, Sivils said.

More common than autoimmune disorders lupus and multiple sclerosis, Sjögren’s affects about 3 million people. But there are likely many more who haven’t been properly diagnosed, she said. The national Sjögren’s Syndrome Foundation estimated that there are about 2.5 million undiagnosed patients in the country. About 90 percent of patients are women.

The organization surveyed 3,000 adult patients in 2016 and found more than half have made one work-related change as a result of the disease, with about 28 percent of respondents stopping working and 28 percent cutting back on hours worked. About 27 percent of patients switched to a less demanding career.

Sivils is the OMRF’s co-director of the Autoimmune and Cancer Biomarkers Group and is director of the Sjögren’s Research Clinic. She and her colleagues published their findings in the June edition of PLOS Genetics. Sivils and her colleagues gathered DNA samples from diagnosed patients around the world and processed the material to look for patterns. They looked at the genes that are activated when a virus multiplies in a person’s body to see which genes were overactive or underactive, compared to a control group. That led to a single gene, OAS1, which she was able to show was the variant.

That gene variant alters a person’s response to viral infections. That finding is particularly important in Sjögren’s because scientists don’t yet understand if a virus triggers or perpetuates the disease, Sivils said. The gene variant could also alter how a cell functions.

Scientists still have a lot more to learn about the mechanisms driving the gene variants, and that’s more challenging to study as it relates to chronic disease, Sivils said. However, the OAS1 gene could help advance research on lupus or other autoimmune diseases.

“You want to find something that distinguishes the two from one another because that affects how you develop treatment for those diseases,” she said.

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