Lupus genes identified
Lupus mostly affects young women
Monday, 21, Jan 2008 01:06
A number of genes involved in the autoimmune disease Lupus have been identified by researchers, raising hopes of options for new targeted therapies.
An international team of scientists found evidence of an association between Lupus and mutations in several different genes.
They say the discovery will enable future studies into the specific pathways and mechanisms involved in developing lupus - potentially opening up new treatments for the disease.
Lupus mostly affects young women and frequently causes skin rash, joint pains and malaise.
The condition can also lead to inflammation of the kidneys and other internal organs.
After studying genetic material from more than 3,000 women, the researchers found the strongest associations with Lupus in three genes: ITGAM, PXK and KIAA1542.
The role of the molecules encoded by PXK and KIAA1542 has not been identified yet, but the scientists say the discovery of variations in the ITGAM gene in people with Lupus suggests that they play a role in how the immune system functions and how the disease develops.
They also found that two other genes, LYN and BLK, appear to be involved in Lupus.
These genes affect B cells, which have a vital role in the production of antibodies. Autoantibodies, which attack the body's own proteins, contribute to the damage done to the body in Lupus.
Professor Timothy Vyse, a Wellcome Trust senior at Imperial College London, said the findings represent a "milestone in progress towards unravelling the secrets of the disease".
"Lupus is a complex disease, which is hard to diagnose, and it can cause many different and unpredictable problems for patients," he added.
"Living with Lupus can be really tough. We currently can treat the disease by suppressing the immune system, but we urgently need to understand in much more detail what goes wrong with the immune system so that we can design better treatments."
Professor Vyse continued: "We are continuing to work on refining these genetic studies. Blood samples from patients with Lupus have helped us already and we are very grateful to those who have given us samples.
"We always need more samples and would like to hear from anyone with Lupus who would like to help us by giving blood samples for this important research."