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Health

Genetic mutation is behind cystic fibrosis

2 April 2008

Coughing and spluttering is a familiar soundtrack to winter, but for people with cystic fibrosis, lung infections are a year-round hazard. Now researchers are closer to understanding why.

Cystic fibrosis is caused by a genetic mutation in an ion transporter in lung cells. The cells were thought to dehydrate because they didn’t get enough chloride ions, allowing mucus to accumulate and bacteria to flourish. But Erich Gulbins, at the University of Duisburg-Essen, Germany, and colleagues have found something different. In mice with the same mutation, faulty ion transportation raises the pH inside the cells. This disrupts the balance between…

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