| Genetic Abnormality and Localization of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in Patients with Nasal Polyps |
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Yong Ju Jang, Chung Hun Oh, Chul Hee Lee |
1Department of Otolaryngology, Dankook University Collage of Medicine, Seoul, Korea. yjang@anseo.dankook.ac.kr
2Department of Otorhinolaryngology, Seoul National University College of Medicine, Seoul, Korea. |
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| Abstract |
Background and Objectives
Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel protein, its kinetics and localization are altered in cystic fibrosis. The purpose of this study was to evaluate whether the nasal polyp patients without phenotypic manifestation of cystic fibrosis have any form of CFTR mutations and to characterize the localization of CFTR in the nasal polyp.
MATERIALS AND METHODS
The study group consisted of 71 subjects with nasal polyp who underwent an intranasal operation, and 20 normal subjects. Peripheral blood of the study groups were screened for mutation on the exon 3, 4, and 7 of the CFTR gene using single-stranded DNA conformational polymorphism (SSCP). Immunohistochemical staining for CFTR was conducted on the nasal polyps of studied subjects and normal turbinates as the control.
Results
While in the nasal polyp group, SSCP screening revealed two cases of mutant band on the exon 3, the normal control group did not show mutant band in all exons screened. CFTR showed the typical apical distribution in the normal turbinate mucosa, whereas in the nasal polyp, regardless of an abnormal band in exon 3, CFTR demonstrated a heterogenous pattern of localization consisting of cytoplasmic labeling, perinuclear staining, and intermingled apical location.
Conclusion
These results suggest that an altered localization of the CFTR in the nasal polyps, based not only on the CFTR mutation but also on the acquired inflammatory process, may have an important role in the formation of nasal polyps. |
| Key Words:
Nasal polyp;CFTR;SSCP;Immunohistochemistry |
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