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News For February 26, 2008
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Lupus Linked to New Genetic Mutations
Lupus Linked to New Genetic Mutations

(February 27, 2008 - Insidermedicine) Two new genes have been identified as possibly being involved in the risk for developing the autoimmune disease lupus, according to research published in the New England Journal of Medicine.

Here are some facts about lupus:

•    Lupus is an autoimmune condition, meaning that a disruption in the immune system causes the body to attack itself.

•    In lupus, the parts of the body most often affected are the kidneys, brain, and skin. The symptoms of the condition are numerous and include lack of energy, fevers, swollen joints, rashes, and frequent infections.

•    Both the environment and one's genetic makeup are known to play a significant role in the risk for developing lupus.

Researchers from Genentech in San Francisco looked for the presence of over 500 000 simple genetic variations in the DNA of over 1,300 individuals known to have lupus and nearly 1,800 control subjects. They analyzed whether certain of these genetic variations occurred more frequently in those with lupus than in those without the disease.

The investigators found two simple genetic variations that were present far more often in the DNA of those with lupus than in those without the disease. Based on where these variations occurred on the DNA, they determined that the genes most likely to be affected by these small variations are genes known as BLK and ITGAM.

Today's research identifies two new genes that investigators can focus their research on in order to better understand how and why lupus develops in some individuals.

For Insidermedicine in Depth, I'm Dr. Susan Sharma.

 
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