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Bacterial evolution in PCD and CF patients follows the same mutational steps

Lea M Sommer1, Mikkel Christian Alanin2, Rasmus L Marvig3,4

  • 1Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Hørsholm, Denmark.

Scientific Reports
|June 29, 2016
PubMed

Insights

Pseudomonas aeruginosa adapts similarly in both primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) patients. Genetic changes in P. aeruginosa, driven by similar selective forces, enhance survival in the airways of individuals with these distinct genetic disorders.

Area of Science:

  • Microbiology
  • Genetics
  • Pulmonology

Background:

  • Pseudomonas aeruginosa infections worsen outcomes in primary ciliary dyskinesia (PCD) and cystic fibrosis (CF).
  • Both PCD and CF involve impaired mucociliary clearance, leading to chronic airway infections.
  • Genetic adaptation facilitates P. aeruginosa persistence in CF airways, but its role in PCD is unclear.

Purpose of the Study:

  • To compare the within-host evolution of P. aeruginosa in patients with PCD and CF.
  • To identify genetic adaptations and phenotypic changes in P. aeruginosa isolates from PCD patients.
  • To investigate whether P. aeruginosa evolution in PCD mirrors that observed in CF.

Main Methods:

  • Whole genome sequencing of P. aeruginosa isolates from 12 PCD patients.
  • Phenotypic characterization of the sequenced isolates.
  • Comparison of genetic and phenotypic data with P. aeruginosa evolution in CF patients.

Main Results:

  • Ten of 12 PCD patients harbored persistent P. aeruginosa clone types.
  • Convergent evolution was identified in eight genes crucial for P. aeruginosa persistence in CF airways.
  • These genes are involved in antibiotic resistance, quorum sensing, motility, type III secretion, and mucoidy.

Conclusions:

  • P. aeruginosa exhibits parallel genotypic and phenotypic evolution in patients with PCD and CF.
  • Similar selective pressures, such as antibiotic treatment and inflammation, likely drive convergent adaptation in both diseases.
  • Understanding these evolutionary patterns is crucial for managing P. aeruginosa infections in genetic airway disorders.

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