The National Organization for Rare Disorders (NORD)

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News Briefs

Genetic Signature Linked to Severe Lupus Symptoms

Scientists have discovered a genetic signature present in some patients with systemic lupus erythematosus (SLE) that may help identify those at greater risk for developing severe complications including blood disorders, central nervous system damage, and kidney failure. Lupus is a chronic, inflammatory, autoimmune disease. Its symptoms range from unexplained fever, swollen joints, and skin rashes to severe organ damage of the kidneys, lungs, or central nervous system. It affects women nine times more often than men. The current research may also have implications for other autoimmune and inflammatory disorders.

Using DNA microarrays - small silicon chips that contain tiny amounts of thousands of known genes - to carry out a technique called gene expression profiling, the researchers analyzed thousands of genes in the peripheral blood cells of 48 lupus patients and 42 healthy people. Of the genes studied, 14 were linked to a subset of SLE patients with severe disease. In addition, 161 of the genes studied showed different expression patterns in SLE patients than in people without lupus.

The 14 genes, referred to collectively as the IFN (interferon) expression signature, are turned on by the activity of interferon, a complex family of proteins involved in the regulation of immune responses. "Patients with severe SLE consistently showed higher expression levels of this IFN signature," said Timothy W. Behrens, MD, of the University of Minnesota, the principal investigator. Dr. Behrens and colleagues from North Shore Long Island Jewish Research Institute believe the data provide strong support for developing new therapies to block IFN pathways in patients with severe lupus.

The research was featured in the online edition of the Proceedings of the National Academy of Sciences during the week of February 10, 2003. Primary funding is provided by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH).

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Since 1983, working toward the prevention, treatment, and cure of rare “orphan” diseases.

Previous News Briefs

ICORD 2008

FDA and European Union Adopt Shared Form

NORD Representatives Address Congress

CETT Increases Access to Genetic Tests

NORD Honors Innovators at 2007 Tribute Banquet

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Last modified Monday, June 02, 2008