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Infectious bacterial diseases and where to find them

Why Do Some People with Cystic Fibrosis Live Much Longer Than Others? 

Researchers at Boston Children’s Hospital have found that longevity among patients with cystic fibrosis (CF) may be linked to their genes.

Studying over 600 patients with CF, the scientists found five individuals who stood out due to their age–in their 50s and 60s–and relative lung function. By sequencing the genomes of those five patients, the scientists found a set of rare and never-before-discovered genetic variants, related to so-called epithelial sodium channels (ENaCs), that might help explain their longevity and stable lung function.

“Our hypothesis is that these ENaC mutations help to rehydrate the airways of CF patients, making it less likely for detrimental bacteria to take up residence in the lungs,” said Ruobing Wang, MD, a pulmonologist at Boston Children’s.

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Funding: This work was supported by the Gene Discovery Core of The Manton Center for Orphan Disease Research, Boston Children’s Hospital; Gilda and Alfred Slifka, Gail and Adam Slifka and the CFMS Fund; the National Institute of Arthritis and Musculoskeletal and Skeletal Diseases; the National Institute of Health (NIH) (U54 HD090255, P30 DK079307); the Eunice Kennedy Shriver National Institute of Child Health and Human Development/National Human Genome Research Institute/NIH (U19 HD077671); the May Family Fund; Cystic Fibrosis Foundation Therapeutics, Inc. (RO1 HL090136 and U01 HL100402 RFA-HL-09-004); and the National Heart, Lung, and Blood Institute (R37HL51856).

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