U researchers’ discovery could advance testing for lupus

Lupus is a disease in which the immune system attacks healthy tissues and organs.

by Yelena Kibasova

University researchers have identified a gene variant prominent in people who have lupus.

A team led by Timothy Behrens, a University professor of medicine, studied DNA samples of lupus patients as well as healthy individuals from around the world. Researchers found most of the lupus patients had a mutational difference in a specific gene.

“It doesn’t mean that all patients who have this variant will have lupus, but a big majority of them do,” said Ward Ortmann, lab manager for the research.

Lupus, a chronic autoimmune disease, affects one in 185 people in the United States. According to the Lupus Foundation of Minnesota, 90 percent of those living with lupus are women.

“The disease is the body’s own immune system attacking its own healthy tissues and organs,” said Bill Jenison, the foundation’s president. There is no finite cause of lupus, although it is thought to be genetic. There is no cure for the disease, he said.

Symptoms of lupus can show up almost anywhere on the body. They range from rashes on the face and joint pain to extreme fatigue and kidney disease. The disease can be life-threatening if it affects major organs.

“A number of other autoimmune diseases have some of these same symptoms,” said Emily Gillespie, a postdoctoral fellow in the department of medicine who also worked on the research. “Right now, it’s very difficult to diagnose lupus, and some patients might suffer for a few years before they finally get diagnosed.”

The findings could eventually help medical professionals diagnose a patient with lupus through genetic testing. It could also allow pharmaceutical companies to work on medicine that targets the genes responsible for lupus.

Lupus patients are prescribed nonspecific immune suppressants, Gillespie said.

“They just basically help turn off the immune response in a very general way, which, as you can imagine, can have some problems of its own,” she said.

Some of the medicine used is similar to cancer chemotherapy, but used at a much lower dose.

This type of research could eventually help someone like Timberly Williams, 35, who was diagnosed with lupus when she was a teenager in 1987.

Because of the disease, Williams has had almost 100 surgeries, suffered temporary vision loss, dealt with diabetes and has had a kidney transplant.

Williams, who works as the director of client services at the Lupus Foundation of Minnesota, compares lupus to a fingerprint.

“Everybody’s fingerprint is different (and) so is everybody’s immune system,” she said. “Everybody could have different symptoms – there are no two people that are exactly alike.”

Ortmann said Behrens has been collecting families for the research since 1995. The team will continue its research on the gene variant.

“Right now, we are studying the biology of this gene, trying to really figure out its function and how that’s different in patients with lupus,” Gillespie said.

She said they believe there are many genes that contribute to developing lupus, rather than one single gene.