The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis

Heon Yung Gee, Chang Keun Kim, So Won Kim, Ji Hyun Lee, Jeong Ho Kim, Kyung Hwan Kim, Min Goo Lee

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. A 5-yr-old Korean girl was admitted complaining of coughing and greenish sputum. Chest radiographs and computed tomographic (CT) scan revealed diffuse bronchiectasis in both lungs. The patient had chronic diarrhea and poor weight gain, and the abdominal pancreaticobiliary CT scan revealed atrophy of the pancreas. Finally, CF was confirmed by the repeated analysis of the quantitative pilocarpine iontophoresis test. The chloride concentration of sweat samples taken from both forearms of the pateint was an average of 88.7 mM/L (normal value <40 mM/L). After a comprehensive search for mutations in the CFTR gene, the patient was found to carry the non-synonymous L441P mutation in one allele. Molecular physiologic analysis of the L441P mutation of CFTR revealed that the L441P mutation completely abolished the CFTR Cl-channel activity by disrupting proper protein folding and membrane trafficking of CFTR protein. These results confirmed the pathogenicity of the L441P mutation of CFTR circulating in the Korean population. The possibility of CF should be suspected in patients with chronic bronchiectasis, although the frequency of CF is relatively rare in East Asia.

Original languageEnglish
Pages (from-to)166-171
Number of pages6
JournalJournal of Korean medical science
Volume25
Issue number1
DOIs
Publication statusPublished - 2010 Jan 1

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Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis
Mutation
Bronchiectasis
Regulator Genes
Iontophoresis
Pilocarpine
Far East
Sweat
Protein Folding
Sputum
Forearm
Population
Weight Gain
Atrophy
Virulence
Chlorides
Pancreas
Diarrhea
Reference Values

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Gee, Heon Yung ; Kim, Chang Keun ; Kim, So Won ; Lee, Ji Hyun ; Kim, Jeong Ho ; Kim, Kyung Hwan ; Lee, Min Goo. / The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis. In: Journal of Korean medical science. 2010 ; Vol. 25, No. 1. pp. 166-171.
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The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis. / Gee, Heon Yung; Kim, Chang Keun; Kim, So Won; Lee, Ji Hyun; Kim, Jeong Ho; Kim, Kyung Hwan; Lee, Min Goo.

In: Journal of Korean medical science, Vol. 25, No. 1, 01.01.2010, p. 166-171.

Research output: Contribution to journalArticle

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