Cystic fibrosis is one of the most common fatal genetic disorders in the United States, affecting about 30,000 individuals. A comparable number of people in Europe also have CF. It is most prevalent in the Caucasian population, occurring in one of every 3,300 live births. The gene involved in cystic fibrosis was identified in 1989. Located on human chromosome 7, it codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). This protein, normally produced in a number of tissues throughout the body, regulates the movement of salt and water in and out of these cells. The abnormality in the CFTR gene alters the CFTR protein in people with cystic fibrosis. As a result, one hallmark of CF is the presence of a thick mucus secretion which clogs the bronchial tubes in the lungs and plugs the exit passages from pancreas and intestines, leading to loss of function of these organs. Progressive lung disease is the predominant cause of illness and death in people with CF. Mucus blocks the airway passages and results in a predisposition toward chronic bacterial infections.
The most common bacterium to infect the CF lung is Pseudomonas aeruginosa, a gram-negative microorganism with a propensity to live in warm, wet environments. The lungs of most children with CF become colonized (inhabited long-term) by P. aeruginosa before their 10th birthday. The body's response to P. aeruginosa includes inflammation, which causes repeated exacerbations or episodes of intense breathing problems. Although antibiotics can decrease the frequency and duration of these attacks, the bacterium establishes a permanent residence and can never be completely eliminated from the lungs. The treatments for P. aeruginosa lung disease typically involve antibiotics, bronchodilators, anti-inflammatory drugs, and chest physiotherapy to help fight infection and clear the lung passages. While a variety of antibiotics have been used to treat this bacterium in people with CF, improvements in drug delivery systems (such as inhalation) and more effective antibiotics could potentially improve lung function further. It is the goal of the Pseudomonas Genome Project to further aid this effort by providing a detailed understanding of the genetic capacity of this organism.
For more information on CF, please see the Cystic Fibrosis Foundation Therapeutics (CFFT) website. CFFT is the major source of funding for the Pseudomonas Genome Database.