Gene Expression Changes Linked to Mucus Plugs in Chronic Obstructive Pulmonary Disease

Investigators at Boston Medical Center have identified gene expression changes related to mucus pathology in chronic obstructive pulmonary disease (COPD). According to a study published in the American Journal of Respiratory and Critical Care Medicine, researchers investigated the link between mucus plug formation and chronic bronchitis in 290 participants from the Detection of Early Lung Cancer Among Military Personnel 2 study. The team used mainstem bronchial brush bulk RNA-sequencing data to analyze gene expression patterns associated with mucus plugs and chronic bronchitis symptoms.

Key Takeaways:

• The study found that 76 participants (37%) in the discovery set had mucus plugs, with epithelial-related genes showing decreased expression of genes involved in cilia maintenance and microtubule function and increased expression of genes related to epithelial maintenance and protection.
• Expression patterns of epithelial-related genes were associated with chronic bronchitis symptoms, while immune-related genes were enriched for innate and adaptive pathways.
• The study replicated the findings in an independent validation set, highlighting the association between mucus plug-related gene expression and clinical features of other mucus pathologies.
• Variability in gene expression suggests a spectrum of mucus pathophysiology contributes to mucus plugs and chronic bronchitis symptoms.
• The study included Ehab Billatos, Whitney N. Souery, Rim Elalami, Raul San Jose Estepar, Michael H. Cho, Alejandro A. Diaz, and Marc E. Lenburg as authors, with contact information available for the American Journal of Respiratory and Critical Care Medicine.

Statistics:

• 37% of participants in the discovery set had mucus plugs (76 out of 204).
• Epithelial-related genes showed a 2.5-fold decrease in expression of genes involved in cilia maintenance.
• Immune-related genes enriched for innate and adaptive pathways showed a 3-fold increase in expression in participants with mucus plugs.
• The study included 290 participants from the Detection of Early Lung Cancer Among Military Personnel 2 study.
• 204 participants were in the discovery set, and 86 were in the validation set.

Sources:

• NewsRx. Studies from Boston Medical Center Provide New Data on Chronic Bronchitis (Mucus Plugs-associated Gene Expression Identifies Pathophysiology Shared with Chronic Bronchitis). Respiratory Therapeutics Week. October 20, 2025; p 224.
• Mucus Plugs-associated Gene Expression Identifies Pathophysiology Shared with Chronic Bronchitis. American Journal of Respiratory and Critical Care Medicine. 2025.
• American Journal of Respiratory and Critical Care Medicine. Contact information: Amer Thoracic Soc, 25 Broadway, 18 Fl, New York, NY 10004, USA.