ABSTRACT
Cystic fibrosis (CF) is the most common fatal autosomal recessive genetic disease in the Caucasian population. The gene responsible for the disease, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, was cloned in 1989 opening the door to treatment by somatic gene therapy. The mouse models can also be of value in testing somatic gene-therapy approaches. Gene therapy in CF patients will be required for the patients’ lifetime thus the effects of long term transgene expression should be investigated in the mouse models. The major cause of morbidity and mortality in patients with CF is lung disease, and the usefulness of mouse models in mimicking the human disease, or their use in testing therapeutic strategies, is largely dependent on how well they model this aspect of the disease. It is important to establish the relationship between CFTR activity, chloride ion transport and clinical phenotype to estimate what level of correction is necessary to ameliorate the disease.
