Cystic fibrosis (CF) is an autosomal recessive genetic disorder resulting from genetic defects in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR dysfunction in patients with CF leads to a number of pleiotropic manifestations with the prime pathology being mucus plugging in the airways and paranasal sinuses. Patients with CF are prone to polymicrobial infections and the airway microbiome in such patients changes continuously and evolves over time. The composition of the airway microbiome in CF patients is dependent on a number of factors including geographic variation, type of genetic mutation (e.g., ΔF508), antibiotic exposures, and chronic infection with certain pathogenic bacteria (e.g., Pseudomonas aeruginosa). Proteomic and genomic approaches to understanding the microbiome of patients with CF have provided new insights into the pathogenesis of this disease. High‐throughput pyrosequencing, Sanger sequencing, and phylogenetic microarray analysis have enabled the recognition of multiple lineages and clonal populations of a single bacterial species within the same patient. This provides a unique opportunity to explore novel therapeutic approaches to this disease (for instance, use of probiotics and environmental manipulation) and potentially translate them into bedside clinical interventions.
Part of the book: Progress in Understanding Cystic Fibrosis