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Lupus

Description
Lupus is a chronic inflammatory connective tissue disorder that can involve joints, kidneys, mucous membranes, and blood vessel walls. About 90% of people who have lupus are young women in their late teens to 30s. Lupus occurs in all parts of the world but may be more common in blacks and in Asians. The cause of lupus is usually not known. Symptoms vary greatly from person to person. Symptoms may begin suddenly with fever, resembling an acute infection, or may develop gradually over months or years with episodes (called flare-ups) of fever, feeling unwell, migraine-type headaches, epilepsy, severe mental disorders (psychoses), joint symptoms, skin rashes, pain when breathing deeply, and chest pain.

Who is at Risk?
Lupus occurs primarily in women of childbearing age. If affects non-white women more frequently than white women. One study reported that smokers are almost seven times more likely to develop lupus than nonsmokers.

Sources: Merck, Aurora Health Care, A.D.A.M., Inc.

The Genetic I.D. of Lupus
Lupus is a chronic, inflammatory autoimmune disease caused by multiple genetic, environmental, and other factors, most of which are unknown. Approximately 1,400,000 Americans have some form of lupus, a disease that ranges widely case-by-case, has a long list of symptoms, and affects a wide variety of tissues - especially the skin, joints, blood, and kidneys. Lupus occurs when a person"s own B cells produce antibodies that are directed against "self" tissue. These antibodies - secreted proteins also called "immunoglobulins" that help the body clear infections - normally target foreign pathogens in the bloodstream or those displayed on infected cells. But in lupus, the antibodies target the body"s own molecules instead. TSRI researchers, led by Professor Argyrios Theofilopoulos, M.D., are investigating the causes of lupus and are looking for possible targets for intervention. Some genes may have a greater effect than others on the disease, and if they are identifiable, then intervention may result.

No new treatments for lupus have been found since the 1950s, and these treatments have a high incidence of side effects. The hope is that instead of giving non-specific drugs as is the case now, one could design specific drugs to treat a specific form of lupus. Additionally, if scientists know the genes that lead to the formation of the disease, they may be able to predict who is susceptible. Theofilopoulos is interested both in the basic immunological assessment of the disease - its relationship to T cells, B cells, organs like the thymus, and antibodies - and in finding specific molecules important for its pathogenesis. His goal has become to identify all the genetic components of the disease, specifically the "effector" genes that predispose a person to getting lupus or that lead normal genes to be involved in the disease process. He has already selected genes that he believes will have an important effect on the disease process.

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Scientists Find New Genetic Mutation That Halts The Development Of Lupus
Scientists at The Scripps Research Institute have uncovered a specific genetic mutation that suppresses the development of systemic lupus, an incurable autoimmune disease that causes the body to attack itself. The research suggests potential targets for future drug development.

The lupus-suppressing action is the result of what is known as a nonsense mutation of the Coronin-1A gene ( Coro1a) required for the development of the disease. A nonsense mutation causes the gene to produce proteins that no longer function. The Coronin-1A gene is a multifunctional regulator of the cytoskeleton, a network of protein fibers or filaments in the cell that helps maintain cell shape and is the key contributor to cell movement. The mutation reduced symptoms of the disease by interfering with the development and activation of T cells and other immune responses. Dwight Kono, M.D., an associate professor at The Scripps Research Institute, led the study. These findings solidify the critical role of Coronin-1A in normal immune responses, and identify it as a potential therapeutic target for lupus.

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