Duke Researchers Discover Candidate Susceptibility Gene For Autoimmune Disease

DURHAM, N.C. -- Researchers at Duke University Medical Center have identified a gene in mice that, when malfunctioning, causes a joint-destroying, arthritis-like disease in the animals. The discovery may provide a clue to the underlying genetic defects that can lead some people's immune systems to attack their own bodies, the Duke researchers say.

Led by Dr. Perry Blackshear of the Howard Hughes Medical Institute at Duke University, the research team published their results in the May issue of the journal Immunity. Gregory Taylor and Ester Carballo of Blackshear's lab were the lead authors of the paper. Blackshear also is a professor of biochemistry and medicine at Duke medical center.

To date, doctors have not identified any specific genes for autoimmune diseases such as rheumatoid arthritis, although many researchers believe there may be several genes that, when defective, predispose people to develop autoimmune disorders.

The Duke researchers made the discovery while trying to understand the role of a gene of unknown function that seemed to be involved in the action of insulin, a hormone involved in diabetes. Instead, they found they had actually located what may be a key gene involved in autoimmune diseases such as arthritis and dermatitis.

"This research is a perfect example of how research in one area can often lead to an understanding in an apparently unrelated field," Blackshear said. "We were studying factors in the body that are influenced by insulin, which regulates sugar levels in the bloodstream, and instead, discovered a gene that appears to regulate the inflammatory response."

Working with Duke University Arthritis Center researchers Dr. Bart Haynes and Dr. Dhavalkumar Patel, and with Dr. Gary Gilkeson, Blackshear's team determined that the animals had characteristic antibodies against their own tissues that represent an inflammatory autoimmune response. By comparing their mice with other anima

Contact: Karyn Hede George
Duke University

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