Cystic Fibrosis (CF) affects the glands and epithelial cells of the body in the lungs, liver, pancreas, digestive system and reproductive system. It is frequently fatal, frighteningly progressive and always unremitting. Most individuals with CF will have a life span of thirty years or less. This disease is present in nearly 30,000 Americans and approximately 1 in every 20 Americans is a non-symptomatic carrier of the CF gene. (NIH, 1995) That ratio represents approximately twelve million people who are carriers and possibly not aware in this country alone. (NIH) Doctors and scientists are now looking toward gene therapy, specifically SmaRT gene therapy as a possible cure.
CF is an autosomal recessive disorder. Which can be defined as a child must inherit one mutated gene from each parent in order to have the disease. (JHU, 2001) Scientists found the gene site for CF in August of 1989; it is mapped on chromosome 7. (Lee, 152) The mutated gene that causes CF actually results from the flawed production of a "CFTR" protein, or cystic fibrosis transmembrane regulator. In a healthy cell, this CFTR protein would act as a transport channel (transport protein) for sodium and chloride within the cell membrane. In a person with CF, this protein is unable to function properly because the instructions the defective gene has supplied on how to make this particular protein were incorrect. The CFTR therefore cannot transport the chloride ions across the cell membrane, and the cell's fluid balance and electrolyte production are jeopardized. (Engelhardt, 2001) This aforementioned imbalance in the cell causes the glands and epithelial cells to produce thicker mucus secretions in the lungs, intestines, digestive system and pancreas. This thicker mucus, in turn, causes many of the symptoms of CF. Mucus within a healthy body lubricates our internal systems, preventing tissue from drying out and protecting them from infection.
