Pathophysiology and genomics of bronchiectasis.

Area of Science:

• Pulmonology
• Genomics
• Respiratory Medicine

Background:

• Bronchiectasis is a heterogeneous chronic inflammatory airway disease with unknown causes in 30-40% of patients.
• Pathophysiology involves airway infection, chronic inflammation, mucociliary dysfunction, and lung damage, described by the vicious vortex model.
• Despite research, significant gaps remain in understanding bronchiectasis pathophysiology and identifying distinct endotypes.

Purpose of the Study:

• To review the key components of bronchiectasis pathophysiology.
• To explore the application of genomics and omics approaches (proteomics, metabolomics, epigenomics) to deepen understanding of bronchiectasis.
• To propose the concept of trained innate immunity as a complementary model for bronchiectasis pathophysiology.

Main Methods:

• Review of existing literature on bronchiectasis pathophysiology and genomic studies.
• Analysis of the potential of omics technologies (genomics, proteomics, metabolomics, epigenomics) in identifying new bronchiectasis endotypes.
• Integration of the concept of trained innate immunity, driven by microbiome and epigenetic modifications.

Main Results:

• Genomic approaches, including microbiome and proteome diversity studies, have begun to reveal insights into bronchiectasis.
• Omics technologies offer potential for identifying novel molecular insights and endotypes, though systematic application is limited.
• Trained innate immunity presents a novel framework to complement the existing vicious vortex model of bronchiectasis.

Conclusions:

• Genomics and advanced omics technologies are crucial for advancing the understanding of bronchiectasis pathophysiology and identifying new endotypes.
• The concept of trained innate immunity provides a new perspective on the disease mechanisms.
• Application of genomics in clinical practice holds promise for better patient stratification and the development of targeted therapies.