Gene Behind Autoimmune Diseases Identified by Researchers

Newswise — A report in the March 22 issue of the New England Journal of Medicine reveals that a pinpointed region of chromosome 17, a gene named NALP1, could be a new target of treatment for autoimmune diseases. This is a particularly exciting discovery because NALP1, a gene known to control part of the immune system that serves to alert the body to viral and bacterial attacks, has not previously been specifically implicated in autoimmune diseases, affirms the American Autoimmune Related Diseases Association (AARDA), a national nonprofit patient advocacy organization. The discovery was the result of collaboration between St. George University of London, the University of Colorado at Denver and Health Sciences Center (UCDHSC), and the Barbara Davis Center for Childhood Disorders.

Why does the body choose the misdirected path of attacking itself, in an autoimmune process, when it sets out to eliminate invaders, such as bacteria or viruses, thus resulting in autoimmune diseases--for example, lupus, multiple sclerosis, rheumatoid arthritis, vitiligo, thyroiditis (Graves', Hashimoto's), juvenile (type 1) diabetes, or any one of the more than 100 such diseases?

The findings of this latest research study, which followed 656 persons from 114 extended families in the United States and the United Kingdom who had multiple autoimmune diseases, give the researchers a clue as to why the immune system attacks one of the body's own tissues. "If the sensor NALP1 is overreactive, it could trigger a response to the wrong stimulus," said Professor Dorothy Bennett, Professor of Cell Biology at St. George's University of London, investigator for the UK arm of the study. She added, "We hope to study exactly how this works and to learn even more from the other genes that we are working to identify."

Lead investigator Dr. Richard Spritz, director of the Human Medical Genetics Program at UCDHSC, was quoted as saying, "Since NALP1 appears to be part of our body's early-warning system for viral or bacterial attack, this gives us ideas about how to try to discover the environmental triggers of these diseases." Dr. Spritz said, "This finding may also open up new approaches to treatment, possibly for many different autoimmune diseases."

Dr. Peter Gregerson, director of the Robert S. Boas Center for Genomics and Human Genetics, Feinstein Institute for Medical Research in Manhasset, NY, calls the study "provocative." He said, "It raises the issue of whether this gene might be involved in more common disorders." He also commented that this research is a good example of "a successful, family-based approach to gene identification and an example of how new genes identified that way can raise new connections among different diseases."

It has been estimated that 50 million Americans are affected by autoimmune diseases which rank among the top ten causes of death in women. Recognition of the family connection, as alluded to by Dr. Gregerson, is important because the ability to develop an autoimmune disease is determined by a dominant genetic trait that is very common (20 percent of the population) and may present in families as different autoimmune diseases within the same family. It is important for families with members who have autoimmune diseases to mention this fact when another member of the family is experiencing medical problems that are difficult to diagnose. "Autoimmune diseases are often difficult to diagnosis; however, a family history of autoimmune disease is a major clue" said Virginia Ladd, President of the American Autoimmune Related Diseases Association.

About AARDA American Autoimmune Related Diseases Association (AARDA) is the nation's only non-profit organization dedicated to bringing a national focus to autoimmunity as a category of disease and a major women's health issue, and promoting a collaborative research effort in order to find better treatments and a cure for all autoimmune diseases. For more information, please visit http://www.aarda.org or call 586-776-3900 or 888-856-9433.