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Published on: June 14, 2016
Promoter analysis and aberrant expression of the MUC5B gene in diffuse panbronchiolitis
Koichiro Kamio1, Ikumi Matsushita, Minako Hijikata
1Department of Respiratory Diseases, Research Institute, International Medical Center of Japan, 1-21-1 Toyama, Shinjuku-ku, Tokyo 162-8655, Japan.
Abstract:
Diffuse panbronchiolitis (DPB) is a chronic inflammatory airway disease predominantly affecting Asian populations. DPB is considered to be a complex genetic disease. Considering the mucous hypersecretion of the disease, we hypothesized that the transcriptional activity of mucin genes may be altered in DPB. We analyzed nucleotide sequences of regulatory region of six mucin genes--MUC1, MUC2, MUC4, MUC5AC, MUC5B, and MUC7--and detected their promoter polymorphisms. Among them, the insertion/deletion polymorphism identified in the MUC5B gene was significantly associated with the disease (p = 0.0001). Transcriptional activity observed in the three major promoter haplotypes corresponded to the strength of the disease association in which these haplotypes are involved. Immunohistochemistry of the lung tissues of DPB revealed that MUC5B was abundantly expressed not only in bronchial glands but also in increased numbers of goblet cells on the bronchial surface, where MUC5AC is predominant and MUC5B expression is generally scarce in the normal lung. Marked mucous hypersecretion observed in DPB may be partly explained by increased and aberrant expression of MUC5B. The possible involvement of MUC5B gene in DPB was demonstrated. A further role of the MUC5B polymorphism in its pathogenesis should be studied in the future.
Insights
Diffuse panbronchiolitis (DPB) involves altered mucin gene expression, particularly MUC5B. A MUC5B gene polymorphism is significantly associated with DPB, suggesting its role in the chronic airway disease.
Area of Science:
- Pulmonary Medicine
- Genetics
- Molecular Biology
Background:
- Diffuse panbronchiolitis (DPB) is a chronic inflammatory airway disease prevalent in Asian populations.
- DPB is characterized by mucous hypersecretion and considered a complex genetic disorder.
Purpose of the Study:
- To investigate the potential alteration of mucin gene transcriptional activity in DPB.
- To identify specific mucin gene polymorphisms associated with DPB pathogenesis.
Main Methods:
- Analysis of promoter polymorphisms in six mucin genes (MUC1, MUC2, MUC4, MUC5AC, MUC5B, MUC7).
- Assessment of transcriptional activity of MUC5B promoter haplotypes.
- Immunohistochemical analysis of MUC5B and MUC5AC expression in DPB lung tissues.
Main Results:
- An insertion/deletion polymorphism in the MUC5B gene promoter was significantly associated with DPB (p = 0.0001).
- MUC5B promoter haplotypes showed varying transcriptional activity correlating with disease association.
- MUC5B was abundantly expressed in bronchial glands and goblet cells in DPB lungs, unlike normal lungs where MUC5AC predominates.
Conclusions:
- The MUC5B gene, specifically its polymorphism and aberrant expression, is implicated in the pathogenesis of diffuse panbronchiolitis.
- Increased MUC5B expression contributes to the marked mucous hypersecretion observed in DPB.
- Further research into the role of MUC5B polymorphisms in DPB is warranted.
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