New genetic mutation that halts the lupus development identified

January 18th, 2008 - 6:29 pm ICT by admin  

Washington, Jan 18 (ANI): Scripps research scientists have found that a nonsense mutation of the Coronin-1A gene (Coro1a) halts the development of lupus, a devastating immune system disease.

A nonsense mutation is one, which 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 fibres 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. These findings solidify the critical role of Coronin-1A in normal immune responses, and identify it as a potential therapeutic target for lupus, said Dwight Kono, an associate professor at The Scripps Research Institute.

The researchers were extremely interested in defining the genetics of systemic lupus erythematosus, not only for gaining a better understanding of the fundamental causes of the disease but also for the development of potential therapies.

We were searching for a lupus susceptibility gene. After mapping and cloning the Coronin-1A gene, we discovered this spontaneous mutation in a single strain of mice-those that dont get severe or systemic lupus-like disease. More than likely, the mutation had existed undetected in our mouse colony for years, Kono said.

We ended up cloning a disease-resistance gene when we were thinking about doing the opposite. Suppressive genes may, in fact, play an important role in lupus susceptibility, he added.

The new study was published in the January 18 edition of the journal Immunity. (ANI)

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