A Mutation that could Determine People who are at Risk for Lupus Nephritis
Nearly 60% of lupus patients will suffer a potentially severe complication involving their kidneys known as lupus nephritis (LN). Lupus Foundation of America (LFA) Gina M. Finzi Memorial Student Summer Fellowship (Finzi) award winner, Philip Carlucci, and his mentor, Dr. Robert Clancy, researched gene mutations to identify markers that predict which patients will develop kidney damage. A mutation in a protein associated with lupus called the Human Leukocyte Antigen (HLA) seems to cause the protein to bind to a natural killer (NK) cell that is responsible for suppressing local inflammation, promoting inflammation.
NK cells can normally restrict inflammatory responses. When HLA binds to the NK cell, it is rendered incapable of controlling inflammation, allowing local inflammatory responses to persist unchecked. The mutation is more likely to be found in people with lupus who eventually develop kidney dysfunction and will be evaluated in a group of people with the disease. A positive association between this mutation and LN would lead to a new genetic marker that could be used to predict which lupus patients are at risk of kidney damage and could help clinicians initiate early treatments. The pathway could also be studied for development of drug therapies to treat LN.
“Kidney disease is a significant cause of morbidity and mortality in lupus patients and currently there is no way to predict which patients are at risk of developing this complication. We hope to identify a marker that could be used to predict progression to lupus nephritis and be evaluated for its therapeutic potential so that we can initiate treatments earlier and prevent this end organ damage,” shared Carlucci.
LN is a priority for researchers and clinicians particularly because early recognition is associated with better outcomes. Therefore, it is of significant importance to identify markers that predict which patients will develop kidney damage.
Carlucci plans to continue his research of LN as well as pursue clinical practice in lupus. Each year the Finzi award grant program connects students with leading scientists in the lupus field to advance lupus research and contribute to future therapies, prevention strategies and educational programs.
“I am incredibly grateful to the Lupus Foundation of America for granting me the Finzi Fellowship this past summer,” shared Carlucci. “By connecting me with several influential mentors, this organization has facilitated my continued interest in a career researching lupus.”
Learn more about Carlucci and his research efforts.