Fixing Cystic Fibrosis

cystfib lungs

Around 30,000 people in the United States have been diagnosed with cystic fibrosis. This is a condition in which a genetic flaw affects the way the body uses water and salt, causing the mucous that lines the lungs and digestive organs, rather than being slick as it normally is, to turn sticky. When this happens, it makes breathing and digestion difficult. Cystic fibrosis is typically diagnosed in childhood, though it is a lifelong condition. Symptoms in children include poor growth, poor weight gain despite a normal appetite, and chest infections, as well as the mucous itself.

People with cystic fibrosis are prone to a type of lung infection called bronchiectasis, an abnormal stretching of the passages of the lungs that causes coughing fits and bad breath. The lung damage from cystic fibrosis can also lead to people coughing up blood, chest pain, and even collapsed lung or respiratory failure. Cystic fibrosis also affects fertility, particularly in men, who may become completely infertile. The condition can open the door to diabetes, nasal polyps, osteoporosis, malnutrition, gallstones, certain kinds of bowel obstruction, and liver disease.

In fact, one pathogen that commonly causes illness in people with cystic fibrosis is a quite common one in healthy people—but it is primarily in people whose lungs are already affected by cystic fibrosis that the bacterium has an effect. In people with the condition, the pathogen, Pseudomonas aeruginosa, causes a form of pneumonia. The reason this bacterium is active in cystic fibrosis patients is that it feeds on the waste products of another bacterium, Enterobacter aerogenes, that is associated with cystic fibrosis.

Fortunately, while there is nor permanent cure for cystic fibrosis, new, more effective treatments may be on the horizon. While thousands of gene mutations have been identified as underlying cystic fibrosis, one in particular is responsible for 70 percent of cases. Interestingly, the damaged protein produced by the mutated gene can still function normally—but it gets destroyed by other proteins tasked with eliminating proteins that are damaged. Researchers in France used computer modeling to find ways to disguise the damage, so the damage-fixing proteins leave the ones produced my the mutated gene alone. Thus far it only works on this one common mutation.

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