What is Cystic Fibrosis?

Cystic Fibrosis (CF) is one of the most common, life threatening, inherited diseases, primarily affecting populations of white Caucasian descent, such as those of Europe, North America and Australasia (Table 1). CF affects about 1 in 2,500 newborn babies in the UK, and the estimated population of patients in the UK is currently around 9,000. CF is an autosomal monogenic recessive disorder for which there is no cure at present.

The mutated gene responsible for this disease was identified in 1989 as the cystic fibrosis transmembrane conductance regulator (CFTR) gene, found on chromosome 72. Over 1000 disease-associated mutations of this 1480 amino acid protein have been described3 (see Table 2 for some common mutations). Some mutations result in severe disease impacting many organ systems, while other mutations produce milder symptoms. The most common CFTR mutation, accounting for approximately 70% of all mutant CFTR alleles, is the delta F508 allele, a single phenylalanine amino acid deletion at position 508 in the protein3.