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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...

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Related Experiment Video

Updated: Jul 18, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
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Published on: April 11, 2018

Gene expression profile study in CFTR mutated bronchial cell lines.

S Gambardella1, M Biancolella, M R D'Apice

  • 1Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Via Montpellier 1, I-00133, Rome, Italy. stefanogambardella@gmail.com

Clinical and Experimental Medicine
|December 28, 2006
PubMed
Summary

Cystic fibrosis (CF) is a genetic disease caused by CFTR gene mutations. This study identified altered gene expression patterns in CF cells, suggesting that specific CFTR mutations influence gene expression, potentially guiding genotype-specific treatments.

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Expression and Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein in Saccharomyces cerevisiae
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Expression and Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein in Saccharomyces cerevisiae
14:56

Expression and Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein in Saccharomyces cerevisiae

Published on: March 10, 2012

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Research

Background:

  • Cystic fibrosis (CF) results from mutations in the cystic fibrosis conductance transmembrane regulator (CFTR) gene.
  • CF presents with diverse symptoms, including pancreatic insufficiency and lung disease, with variability influenced by over 1200 CFTR mutations and other CF modifier genes.
  • Understanding CFTR mutation effects on gene expression is crucial for developing targeted therapies.

Purpose of the Study:

  • To identify CF modifier genes by evaluating gene expression patterns in CF bronchial epithelial cell lines.
  • To investigate how different CFTR mutation classes (Class I vs. Class II) impact global gene expression.
  • To explore potential genotype-specific therapeutic strategies for cystic fibrosis.

Main Methods:

  • Utilized a custom low-density oligoarray to assess the expression of 144 selected genes in two CF bronchial epithelial cell lines (CuFi1 and CuFi3) with distinct CFTR mutations (F508del/F508del and F508del/R553X).
  • Analyzed gene expression alterations using a threshold of +/-1.5.
  • Validated array findings using quantitative reverse transcription PCR (QRT-PCR).

Main Results:

  • Out of 144 genes analyzed, 38 (26.3%) exhibited altered expression patterns across both cell lines.
  • Twelve genes were altered in the F508del/F508del cell line (CuFi1), and 26 in the F508del/R553X cell line (CuFi3).
  • Quantitative reverse transcription PCR (QRT-PCR) confirmed the array results with high correlation (R2 CuFi1 = 0.81, R2 CuFi3 = 0.91).

Conclusions:

  • The presence of a Class I CFTR mutation (R553X) appears to cause more significant alterations in gene expression compared to a Class II mutation (F508del).
  • Gene expression profiling in CF cells reveals distinct patterns influenced by specific CFTR genotypes.
  • Identification of genotype-dependent gene expression changes could pave the way for developing personalized pharmacological treatments for cystic fibrosis patients.