FFC#9/2014

Cystic fibrosis modifier genes related to Pseudomonas aeruginosa lung disease

FFC#9/2014

Cystic fibrosis modifier genes related to Pseudomonas aeruginosa lung disease

PRINCIPAL INVESTIGATOR

Alessandra Bragonzi (Unità di Infezioni e Fibrosi cistica, Divisione di Immunologia, Trapianti e Malattie infettive, Istituto Scientifico San Raffaele, Milano)

Partner

Fuad Iraqi (Clinical Microbiology and Immunology, Tel Aviv University)

RESEARCHERS

7

CATEGORY

AREA 1 Therapies to correct the underlying defect

DURATION

2 years

GOAL

€ 78.000

RESULTS

Data were shown demonstrating that level of P. aeruginosa infection is controlled by host genetic diversity which impact on disease severity. A significant locus was mapped on chromosome 3 and was named Pseudomonas respiratory infection resistant locus. Within this genetic locus 14 candidates genes, including those related to host defense and immunity, were ranked and considered as promising candidates gene modifiers for validation. These new informations might be translated into human CF population and represent predictive factors of clinical outcome in CF patients.

OTHER RESULTS

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Some peptide nucleic acids (PNAs) re-sensitise Pseudomonas aeruginosa to the antibiotic meropenem in vitro and reduce its virulence.

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Tezacaftor, one of the components of Kaftrio, induces an accumulation of dihydroceramides both in vitro and in vivo in animal models