Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia

Mol Biol Cell. 2005 May;16(5):2154-67. doi: 10.1091/mbc.e04-11-1010. Epub 2005 Feb 16.

Abstract

Previous studies in native tissues have produced conflicting data on the localization and metabolic fate of WT and deltaF508 cystic fibrosis transmembrane regulator (CFTR) in the lung. Combining immunocytochemical and biochemical studies utilizing new high-affinity CFTR mAbs with ion transport assays, we examined both 1) the cell type and region specific expression of CFTR in normal airways and 2) the metabolic fate of deltaF508 CFTR and associated ERM proteins in the cystic fibrosis lung. Studies of lungs from a large number of normal subjects revealed that WT CFTR protein localized to the apical membrane of ciliated cells within the superficial epithelium and gland ducts. In contrast, other cell types in the superficial, gland acinar, and alveolar epithelia expressed little WT CFTR protein. No deltaF508 CFTR mature protein or function could be detected in airway specimens freshly excised from a large number of deltaF508 homozygous subjects, despite an intact ERM complex. In sum, our data demonstrate that WT CFTR is predominantly expressed in ciliated cells, and deltaF508 CFTR pathogenesis in native tissues, like heterologous cells, reflects loss of normal protein processing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Bronchi / metabolism
  • Child
  • Child, Preschool
  • Chlorides / metabolism
  • Cyclic AMP / metabolism
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism*
  • Cytoskeletal Proteins
  • Epithelium / metabolism
  • Gene Expression
  • Homozygote
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Infant
  • Lung / metabolism
  • Middle Aged
  • Mutation*
  • Nasal Mucosa / metabolism
  • Phosphoproteins / metabolism
  • Pulmonary Alveoli / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Respiratory System / metabolism*
  • Sodium-Hydrogen Exchangers / metabolism
  • Water-Electrolyte Balance

Substances

  • CFTR protein, human
  • Chlorides
  • Cytoskeletal Proteins
  • Phosphoproteins
  • RNA, Messenger
  • Sodium-Hydrogen Exchangers
  • ezrin
  • sodium-hydrogen exchanger regulatory factor
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Cyclic AMP