Cystic fibrosis (CF) is the most common fatal genetic disease in the US
today. It causes the body to produce a thick, sticky mucus that clogs the
lungs, leading to infection, and blocks the pancreas, stopping digestive
enzymes from reaching the intestines where they are required to digest
CF is caused by a defective gene, which codes for a sodium and chloride
(salt) transporter found on the surface of the epithelial cells that line
the lungs and other organs. Several hundred mutations have been found in
this gene, all of which result in defective transport of sodium and
chloride by epithelial cells. The severity of the disease symptoms of CF
is directly related to the characteristic effects of the particular
mutation(s) that have been inherited by the sufferer.
CF research has accelerated sharply since the discovery of CFTR in 1989.
In 1990, scientists successfully cloned the normal gene and added it to CF
cells in the laboratory, which corrected the defective sodium chloride transport
mechanism. This techniquegene therapy was then tried on a limited number of
CF patients. However this treatment may not be as successful as originally
hoped. Further research will be required before gene therapy, and other experimental
treatments, prove useful in combating CF.