Researchers from the Australian National University (ANU) have shown rare genetic mutations which have been previously ignored are a “major cause” of lupus, in a world first discovery.
“We have shown for the first time how rare gene variants that occur in less than 1% of the population cause lupus and how these variants drive the disease in the body,” said ANU researcher Dr Simon Jiang from the Centre for Personalised Immunology, an NHMRC Centre for Research Excellence at ANU.
“Until now, it was thought that these rare variants played a negligible role in human autoimmunity and related autoimmune diseases.
“We’ve shown how most lupus patients harbour those so-called rare gene variants and how these rare gene variants cause immune cells to no longer work properly. When the cells no longer work, your immune system struggles to distinguish viruses and bacteria from self, leading to lupus,” he says.
Lupus is an autoimmune disease that targets healthy tissue in the body, causing inflammation, damage and pain. There is currently no cure for the disease.
Dr Jiang spent six years analysing the genetic instructions locked in DNA, which lead to the disease, along with fellow ANU researchers Dr Vicki Athanasopoulos and Professor Carola Vinuesa.
Dr Jiang says the finding will allow “life-saving personalised treatment” for people with lupus and other autoimmune diseases, as well as potentially helping to identify and predict how severe an individual’s lupus is.
“There is huge potential for targeted treatment,” he said.
“I’ve already started treating people who have these rare gene mutations with targeted therapies instead of bombarding their immune system with non-specific treatments that have lots of side effects – which is the current mainstay of therapy.
“Lupus is a disease that can be very hard to diagnose. You can have a lot of illnesses that look like lupus, smell like lupus, but we can’t formally call it lupus.
“It now will only take a few weeks to get a patient’s genome sequence. We can look at how the immune system is behaving, take blood tests and with genome sequencing we can fit the pieces together and see if it is lupus.”