(AUDIO) A gene defect that causes lupus-like symptoms in a mouse model has turned up as significant in some humans with lupus nephritis, offering a path toward predictive testing. Listen as the lead author reporting this study describes its findings and a timeline toward clinical applications.
Which patients with systemic lupus nephritis (SLE) are headed toward its most deadly complication, nephritis? The literature is full of lists of clinical predictors, but what medicine really needs is a blood test that can identify patients at greatest risk when symptoms of lupus first appear.
One team working toward that goal has recently published an article in the Journal of the American Society of Nephrology that describes the first well-characterized pathway from human genetic subtype to physiologic defect in lupus nephritis. In this brief interview, lead author Dawn Caster MD describes recent research in a mouse model that led to humans with lupus, and the prognosis for a useable clinical test that predicts nephritis risk.
Dr. Caster is assistant professor in the Division of Nephrology in the Department of Medicine at the University of Louisville School of Medicine.
What question was your study addressing?
What can you tell us about ABIN1? What does the protein do?
Your current study went beyond mice. Can you tell us about that?
What are the potential implications? What is this going to mean to rheumatologists down the road?
Does this affect your thoughts in patient treatment now?
Essentially what we show in our animal model is that when the protein that TNIP1 codes for isn't working correctly, there is increased inflammation ... leading to a lot of the findings we typically see with SLE
We were able to reveal a strong association at two different SNPs, one in Europeans and one in African-Americans
We are learning more and more about different genetic variations that affect the risk of development of SLE, and specifically lupus nephritis ... that could potentially change disease management.
Unfortunately, we have patients with what we call "bad lupus" that tend to develop everything and that tends to cluster in families, so we keep genetics in mind. As far as specific SNPs, I think in the future it would be very useful to get this kind of genetic information on all of our patients.
Footprints of Lupus Nephritis Spotted in Human Genome
Caster DJ, Korte EA, Nanda SK et al. ABIN1 Dysfunction as a Genetic Basis for Lupus Nephritis. Journal of the American Society of Nephrology (2013) Epub ahead of print August 22, 2013.