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UT Southwestern researchers identify gene linked to inherited form of fatal lung disease
Date:12/19/2008

DALLAS Dec. 19, 2008 Researchers at UT Southwestern Medical Center have determined that a mutation in a gene known for its role in defending the lungs against invading pathogens is responsible for some inherited cases of a lethal lung disease affecting older adults. The same mutation may also be associated with lung cancer, the researchers said.

This is the third gene that UT Southwestern scientists have linked with idiopathic pulmonary fibrosis, or IPF. The study appears online this week and in the January issue of American Journal of Human Genetics.

In the U.S., about 200,000 patients have IPF, and about 40,000 patients die from the disease each year, according to the Pulmonary Fibrosis Foundation. The disease typically strikes people in their 50s and older, causing severe scarring of the lungs. Death usually occurs within three years of diagnosis.

"We don't have any medicines to treat this disease," said Dr. Christine Garcia, assistant professor in the Eugene McDermott Center for Human Growth and Development and of internal medicine at UT Southwestern and the study's senior author. "If a patient is younger than 65, lung transplantation is an option, but most people who develop IPF are older than that."

The ultimate goal, Dr. Garcia said, is to find or develop a medication that can stem the progression of this pulmonary condition.

About one in 50 IPF patients have an inherited form of the disease. It is this familial form of the disease that Dr. Garcia her colleagues are focused on.

"We've been trying to identify the genes and genetic variants that underlie this disease," Dr. Garcia said. "Now, we know there are multiple genes involved."

In 2007, Dr. Garcia and her research team studied two large families in which multiple individuals were affected with IPF to search for a gene causing the disease. This led to the discovery of mutations in genes called TERT and TERC. These two genes are
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Contact: Connie Piloto
connie.piloto@utsouthwestern.edu
214-648-3404
UT Southwestern Medical Center
Source:Eurekalert  

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