Researchers discover genetic pathway in lupus


February 11, 2003
Blog Entry, Health

Researchers have identified a genetic “signature,” a series of genes that are activated by interferon in patients with severe systemic lupus erythematosus (SLE). This is the first time a signature pattern of gene expression has been identified in an autoimmune disease. The identification of this genetic signature may be used in the future to help diagnose lupus, predict the development of serious disease, and perhaps most importantly in treatment decisions. From the Alliance for Lupus Research:RESEARCHERS DISCOVER GENETIC PATHWAY IN LUPUS

Findings May Enhance Diagnosis and Therapy in Patients with Severe Lupus

Contact: Linda De Vito (212) 966-9000 or Diane Brown (201) 568-0662 to arrange interviews with John H. Klippel, M.D., scientific director, Alliance for Lupus Research

Researchers at the University of Minnesota and North Shore Long Island Jewish Research Institute in Long Island, N.Y. — supported by the Alliance of Lupus Research, the National Institute of Arthritis and Musculoskeletal and Skin Diseases and other parts of the NIH *, and the Minnesota Lupus Foundation — have identified a genetic “signature,” a series of genes that are activated by interferon in patients with severe systemic lupus erythematosus (SLE).

This is the first time a “signature” pattern of gene expression has been identified in an autoimmune disease. The identification of this genetic “signature” may be used in the future to help diagnose lupus, predict the development of serious disease, and perhaps most importantly in treatment decisions. Their findings will be published in the online early edition of the journal Proceedings of the National Academy of Sciences (PNAS) the week of February 10, and in its print version in several weeks.

These genes may be involved in susceptibility to lupus, an inflammatory autoimmune disease that can affect multiple organ systems, or more likely involved in the inflammation and organ damage that occurs in the disease.

“Since many of the genes identified are activated by interferon, the study suggests that interferon likely plays a major role in SLE and therapeutic approaches that either block the production of interferon or its action on genes may be important in lupus treatment,” said John H. Klippel, M.D., scientific director of the Alliance for Lupus Research, one of the organizations to underwrite this study.

Timothy W. Behrens, M.D., principal investigator, and colleagues from the University from Minnesota and North Shore Long Island Jewish Research Institute, have developed a “chip” that contains RNA, through a technique called microarray testing, to screen cells taken from people with lupus to determine whether genes are activated or not.

“What is critical is that if this work can be confirmed we may have the stimulus for the development of drugs that would block the production of interferon or the interaction of interferon with genes. Drugs of this type are not currently available,” said Dr. Klippel.

The Alliance for Lupus Research (lupusresearch.org) is a 501(c)(3) organization dedicated to funding research to prevent, treat and eventually cure lupus. In 1999, Robert Wood Johnson IV, a member of the Johnson & Johnson founding family and sole owner of the NFL’s New York Jets, founded The Alliance with the Arthritis Foundation to raise the profile and scope of lupus research. ###

Reference: Baechler E, Batliwalla F, Karypis G, Gaffney P, Ortmann W, Espe K, Shark K, Grande W, Hughes K, Kapur V, Gregersen P, Behrens T. “Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus,” PNAS, February 2003. PNAS articles are published online before print at www.pnas.org. Papers are published online 1 to 5 weeks before they appear in print. The date a paper appears online in PNAS Early Edition is the publication date of record.

* Additional parts of the NIH to fund study include: The NIH’s National Center on Minority Health and Health Disparities, National Institute of Allergy and Infectious Diseases, and the Office of Research on Women’s Health.



Researchers discover genetic pathway in lupus

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