Lupus Research Institute-funded researcher Betty Tsao, PhD, at the University of California Los Angeles has discovered that humansmales in particularwith a variant form of the immune receptor gene "Toll Like Receptor 7 (TLR7)" are at increased risk of developing the autoimmune disease systemic lupus erythematosus (lupus). This breakthrough finding offers renewed hope for developing more targeted treatments.
The powerful finding recently published in the Proceedings of the National Academy of Sciences (PNAS) represents additional strong evidence from human cellsas opposed to mice or other animal cells-that alterations in the TLR7 gene can promote lupus.
Scientists had long been looking for an association between TLR7 gene function and lupus in humans after LRI-funded researcher Silvia Bolland, PhD, reported the discovery in the mouse in 2006.
Validating the Lupus Research Institute's (LRI's) "Human Lupus Biology" initiative to translate mouse findings to human disease, Dr. Tsao has now made the discovery and provided the first evidence that alterations in the TLR7 gene promote lupus in people.
"This is an extremely important scientific and medical advance," said Mark Shlomchik, MD, PhD, professor of laboratory medicine and immunobiology at Yale University. "Before this work, it was known that Toll like receptors 7 and 9 were important in mouse models of lupus, but there was no good, but there was no good evidence for this in people. We only had some evidence that other genes that may work with TLRs were linked to lupus."
"Dr. Tsao's finding that an overactive TLR7 is associated with lupus risk directly implicates the TLR7 gene itself in lupus," Dr. Shlomchik said. "This confirms the mouse data using genetic deficiency and hyperactivity and most importantly identifies TLR7 inhibition as a potential therapy for lupus."
Lupus is a disease of no known cause or cure, although many scientists suspect
|Contact: Liz Bryan|
Lupus Research Institute