Gene Associated With Reduced Mortality From Acute Lung Injury
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Gene Associated With Reduced Mortality From Acute Lung Injury

DENVER -- January 16, 2009 -- Researchers have discovered a gene that is associated with improved survival among patients with acute lung injury (ALI). The findings are published in the January 15 issue of the American Journal of Respiratory and Critical Care Medicine.

"This discovery could benefit patients in 2 ways," said senior author James Crapo, MD, National Jewish Medical and Research Center, Denver, Colorado. "By learning how this specific gene can alter the course of acute lung injury, we can gain insight into the biology of the disease, which could lead to better therapies."

"It also could become a tool in personalised medicine; by screening for this protective genotype and ones that make a person more susceptible to ALI, we can potentially tailor our treatment individual patients with respiratory infections and ALI to minimise the potential harm," he said.

The researchers looked at the gene for extracellular superoxide dismutase (EC-SOD). After sequencing the EC-SOD gene in 52 randomly selected people, they discovered 28 different places within the gene and its promoter that showed variations. Many of the variations occurred together.

The researchers then looked at the various forms of the EC-SOD gene in 2 groups of patients with infection-associated ALI. They found that patients with a specific combination of 4 single nucleotide polymorphisms (SNPs), had a 75% reduced risk of being on a ventilator as all other ALI patients, and an 85% reduced risk of dying.

"This specific set of SNPs, which we call the GCCT haplotype, appears to reduce inflammation in the lung, thereby decreasing the severity of lung injury and ultimately protecting patients from mortality associated with ALI," said first author John J. Arcaroli, PhD, University of Colorado, Denver, Colorado.

"Although we are not yet sure how these particular SNPs alter the action of the EC-SOD, these findings gives us a good starting point to learn more about possible protective mechanisms in ALI and other lung diseases."

SOURCE: National Jewish Medical and Research Center

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