ELECTRONIC LETTER

Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis

K Fujiki¹, H Ishiguro^1,2, S BH Ko², N Mizuno², Y Suzuki², T Takemura², A Yamamoto², T Yoshikawa², M Kitagawa², T Hayakawa², Y Sakai³, T Takayama³, M Saito⁴, T Kondo¹, S Naruse²

¹ Department of Human Nutrition, Nagoya University, Nagoya, Japan
² Department of Internal Medicine, Nagoya University, Nagoya, Japan
³ Sakashita Hospital, Gifu, Japan
⁴ Chybu Health Care Center, Nagoya, Japan

Correspondence to:
Correspondence to:
Dr S Naruse
Department of Internal Medicine, Graduate School of Medicine, Nagoya University, 65 Tsurumaicho, Showa-ku, Nagoya 466-8550, Japan; snaruse@med.nagoya-u.ac.jp

Received 4 November 2003

Accepted 14 November 2003

Keywords: cystic fibrosis transmembrane conductance regulator (CFTR); mutations; polymorphism; chronic pancreatitis

Abbreviations: CBAVD, congenital bilateral absence of the vas deferens; CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane conductance regulator

The first 150 words of the full text of this article appear below.

The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP regulated Cl^– channel that is expressed in many epithelial tissues.¹ In the pancreas CFTR plays a key role in the apical HCO₃^– transport in duct cells.^2–5 Loss of its function due to mutations in the CFTR gene causes cystic fibrosis (CF) of the pancreas with exocrine insufficiency, chronic airway disease, and abnormally elevated sweat chloride concentration. Over 1000 mutations and 200 polymorphic loci in CFTR have now been identified.⁶ These mutations and polymorphisms confer quite variable phenotypes from classic CF to atypical CF with less severe pulmonary lesions, pancreatic sufficiency, and normal or borderline sweat chloride concentration.^7,8 It is now well recognised that the spectrum of CFTR related disease is much broader than previously thought.⁹ Some individuals may exhibit an apparently single clinical feature or a monosymptomatic disease, such as chronic sinusitis, congenital bilateral absence of the vas deferens (CBAVD), . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Ishiguro, H., Steward, M. C., Naruse, S., Ko, S. B.H., Goto, H., Case, R. M., Kondo, T., Yamamoto, A. (2009). CFTR Functions as a Bicarbonate Channel in Pancreatic Duct Cells. JGP 133: 315-326 [Abstract] [Full Text]  
• Poolman, E. M, Galvani, A. P (2007). Evaluating candidate agents of selective pressure for cystic fibrosis. J R Soc Interface 4: 91-98 [Abstract] [Full Text]