The DNA Signature of Lupus
My Uncle suffered from Lupus. The disease itself should have a more sinister sounding name, given the effect it has on the body. Lupus is a form of autoimmune disease which attacks the body and causes an incredible amount of pain. It’s not pretty and complications from the disease can make life even more unbearable for people. There is no cure and sadly there are few treatments outside of managing the pain and side effects of the disease. Thankfully medical researchers have used DNA sequencing to identify a gene variant responsible for causing lupus in a young patient. This doesn’t mean they are on the verge of a cure, but it could possibly lead to tailored treatments.
While it may not seem like a big step forward, the development shows that for the first time, it is feasible for researchers to identify the individual causes of lupus in patients by using DNA sequencing. This will allow doctors to target specific treatments to individual patients.
As I mentioned earlier, lupus can cause a host of different compilations, well medical researchers sequenced the genes of a young girl who suffered a stroke when she was four as a result of her lupus. Other complications can include heart problems, even in the young.
“We can now target her specific disease, and make treatments that will benefit her throughout her life,” said lead researcher Dr Julia Ellyard, from the JCSMR.
Researchers identified a variant in the TREX1 gene. This mutation caused the patient’s cells to produce a molecule called interferon-alpha. Serendipitously enough, clinical trials are already underway for drugs to target interferon-alpha in adults.
Dr Jeff Chaitow, head of rheumatology, a co-investigator and the patient’s treating clinician at Sydney’s The Children’s Hospital at Westmead, said his young patient, now 10 years old, still needs regular steroids and immunosuppressive drugs each day.
“New targeted therapy would be a major benefit in controlling her disease,” he said.
Professor Carola Vinuesa, Co-director of the Centre for Personalised Immunology, said research was showing lupus was primarily caused by defects in only one or a few genes.
“This is the new age of personalised medicine,” she said. “This study shows that it is possible to unravel the detailed and individual genetic causes of lupus in individuals.
“Lupus is a heterogeneous disease and patients can experi.ence a number of different symptoms. We believe that there are different genetic causes of lupus. Understanding these defective genes and pathways in each individual will help tailor treatments.”
Professor Matthew Cook, Co-director of the Centre for Personalised Immunology, said the results proved the potential benefits of personalised medicine, where doctors will be able to target treatments to individual patients.
“We are optimistic that this represents proof of principle for a new approach to diagnosis and treatment of a range of complex immunological disease,” Professor Cook said.
While this news might have come too late for my Uncle, I still have a special place in my heart for those suffering from autoimmune diseases. While cost might be the determining factor for this technology to become mainstream, the costs are coming down so rapidly that, in the next few years ideally, we will be able to personalize more than just lupus treatment with DNA testing.
Want more? You can find the full study —here!
Julia I Ellyard, Rebekka Jerjen, Jaime L Martin, Adrian Lee, Matthew A Field, Simon H Jiang, Jean Cappello, Svenja K Naumann, T Daniel Andrews, Hamish S Scott, Marco G Casarotto, Christopher C Goodnow, Jeffrey Chaitow, Virginia Pascual, Paul Hertzog, Stephen I Alexander, Matthew C Cook, & Carola G Vinuesa (2014). Whole exome sequencing in early-onset cerebral SLE identifies a pathogenic variant in TREX1 Arthritis & Rheumatology : 10.1002/art.38824