Cystic Fibrosis

Cystic Fibrosis

Cystic fibrosis is the most common lethal inherited disease, affecting about 30,000 patients worldwide. In the past decade, strides in patient management and the development of new pharmacological agents, coupled with scientific and technological advances, have increased the mean life expectancy of CF patients to approximately 30 years of age (approximately 50% of CF patients live to the age of 30). As early as 30 years ago, the median survival age was 8 years. Chronic lung infections, which lead to declines in lung function, remain the major cause of morbidity and mortality. While several pathogens have been implicated, Pseudomonas aeruginosa—an opportunistic and virulent bacterium—has an affinity for the lung tissue of CF patients. New research efforts, focused on gene mapping as a possible mechanism to identify mutations correlating with increased bacterial virulence, may lead to new therapeutic discoveries and enhanced patient outcomes (Smith, 1999).

A pair of genes that are not working properly causes cystic fibrosis. There are more than 700 different mutations that cause cystic fibrosis; however, most cases of CF are caused by relatively few mutations. This makes it possible to screen for CF carriers. The eight most common mutations in CF chromosomes are DF508, 3 mutations in exon 11-G542X, G551D, R553X, a slice mutation 621+1G-T, and mutations in amino acids 1282, 1303, and 455. These account for about 80 to 85% of the mutations in the Caucasian population. Detection rates may vary with ethnic background. Because not all cystic fibrosis mutations are detectable, a negative result does not mean that the patient is not a carrier (Lory, 1999).

The most common mutation is referre...

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