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Scientists Implicate Gene in Vitiligo and Other Autoimmune Diseases

predisposing people to vitiligo and other autoimmune diseases, particularly autoimmune thyroid disease, says Dr. Spritz. We know that about 20 percent of people with vitiligo also get autoimmune thyroid disease, and this gene may be involved in mediating both of those, he says.

Dr. Spritz says the implications of this finding are exciting. The identified gene controls part of what is called the innate immune system, which is our bodys first defense against infection, he says. When we are attacked by viruses or bacteria, the innate immune system stimulates the inflammatory pathways and calls the rest of the immune system to action. NALP1 is probably a receptor for bacterial or viral signals. We dont know what these signals are, but now that we know what the gene is, we can use that knowledge to search for the signals that trigger autoimmune disease.

All autoimmune diseases involve the interaction of multiple genes and environmental triggers, he continues. You are born with your genes, but you are not born with these diseases. Something happens. We dont know what the triggers are that start these diseases, but if we did, maybe we could avoid them or even block the process. In fact, it may even be possible to actually stop the autoimmune disease, he says.

The most immediate application of this research might be for the disease that began the research: vitiligo. Doctors usually treat vitiligo with ultraviolet (UV) light to stimulate skin repigmentation. Scientists also know that there is one medication available (approved for treating rheumatoid arthritis) that blocks an inflammatory pathway thought to be controlled by NALP1. The possibility of combining a drug with UV light to improve vitiligo treatment is intriguing, and Dr. Spritz is now interested in finding out more about how the medication might affect people with vitiligo.

NIAMS Director Stephen I. Katz, M.D., Ph.D., calls the discovery of the NALP1-autoimmunity connection an important
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