Key Gene Variant Could Cause Lupus

A key gene that is found in patients who contract Lupus could be an essential part in curing the disease. Researchers at the Wellcome trust are asking for donations of DNA samples so they can better study the gene that could possibly cause the disease. The genetic variant increases the risk of developing Lupus by 50 percent per copy.

"Lupus can be a very serious condition, but because its symptoms are often similar to those of other illnesses, it can be difficult and take time to diagnose," said Professor Vyse, a Wellcome Trust Senior Fellow from Imperial College. "Although it appears to have a number of environmental triggers, we are now beginning to get a clearer picture of the role that genetics also plays in the disease." An autoimmune disease that causes rashes, joint pain, and inflammation of internal organs, Lupus affects an estimated 50,000 people in the United Kingdom alone. It is difficult to diagnose and there is no cure. Triggers can be as simple as sunlight, stress, puberty, even childbirth.

"As well as causing problems with diagnosis, Lupus's many symptoms make it difficult to work out which are key to the disease," he says. "Identifying a specific gene will enable us to see at a molecular level what is behind Lupus and develop treatments targeted at inhibiting or blocking the action of those genes." Previously the researchers had discovered two other genes that could possibly be involved in people developing Lupus. One appears to regulate interferons, which are present in excessive amounts of people with Lupus. Interferons are proteins that are produced by the immune system, usually to respond to tumors, bacteria, or viruses that attack the body.

However, they are still unclear on how these genes affect developing the disease. The researchers hope that with more people willing to give DNA samples, the gene's role will be able to be determined, and treatments developed.

"Without DNA samples from people with Lupus, we would be unable to study the disease," Vyse said. "Despite the disease being relatively common, DNA samples are in short supply. I would encourage patients to discuss with their GP or consultant about providing a blood sample to help further our understanding."

Current research has been conducted with samples from only 1400 of the people in the United Kingdom with Lupus and their close genetic relatives.

Source:

Wellcome Trust, "Lupus gene finding prompts call for more DNA samples", Eurekalert