Non-tuberculous mycobacteria, in particular Mycobacterium abscessus (Mab), represent an emerging threat to people with cystic fibrosis (CF), as they are often associated with difficult-to-treat and antibiotic-resistant infections. For this reason, it is important to understand how these bacteria spread and how the body reacts to infections, with the aim of improving diagnosis, treatment and quality of life for people with CF.

In the first part of the project, the researchers collected and analysed Mab samples from Italian CF Centres, sequencing their genome (DNA) using advanced techniques to identify their circulating variants and their resistance to antibiotics: with this analysis, the main Mab variants present in Italy were identified.

In the second part of the project, the researchers collected immune cells from people with CF called peripheral blood mononuclear cells (PBMCs), of which they then analysed the transcriptome, i.e. the set of transcribed genes (mRNA), to identify specific molecular profiles associated with the lung disease caused by mycobacteria. Specific immunological markers were identified in patients with lung disease caused by mycobacteria, which are useful to distinguish the different stages of the disease in CF.

The results obtained will guide new studies to validate and extend immunological markers and to evaluate targeted therapies against chronic Mab infections in cystic fibrosis, with a view to personalised medicine.