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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...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...

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Updated: Jun 2, 2026

Functional Reconstitution and Channel Activity Measurements of Purified Wildtype and Mutant CFTR Protein
09:59

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Published on: March 9, 2015

Assessment of CFTR function in homozygous R117H-7T subjects.

R A de Nooijer1, J M Nobel, H G M Arets

  • 1Department of Pulmonology, University Medical Centre Utrecht, GA Utrecht, The Netherlands. r.denooijer@umcutrecht.nl

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|April 22, 2011
PubMed
Summary

The R117H mutation in cystic fibrosis transmembrane conductance regulator (CFTR) shows normal function in airways and intestines but borderline sweat test results in individuals. This contrasts with in vitro studies, suggesting compensatory mechanisms in vivo.

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Area of Science:

  • Genetics and Molecular Biology
  • Physiology
  • Medical Research

Background:

  • The R117H mutation is common in cystic fibrosis transmembrane conductance regulator (CFTR) mutation panels.
  • Limited data exists on the residual function of R117H-CFTR channels in key cystic fibrosis organs like airways, intestines, and sweat glands.

Purpose of the Study:

  • To investigate the in vivo residual function of R117H-CFTR.
  • To correlate R117H-CFTR function with clinical symptoms in affected individuals.

Main Methods:

  • Evaluated clinical cystic fibrosis symptoms.
  • Assessed CFTR function using sweat tests, nasal potential difference, and intestinal current measurements.
  • Studied two homozygous R117H individuals with the 7T variant.

Main Results:

  • CFTR activity in airways and intestines was within the normal range.
  • Both individuals exhibited borderline sweat test results.
  • The male patient experienced infertility.

Conclusions:

  • R117H mutation's impact on intestinal and nasal chloride secretion in vivo differs from in vitro patch clamp studies.
  • CFTR activity may not be rate-limiting for chloride secretion in the intestine and nose at levels above 20% of normal.
  • Compensatory factors might be present in vivo that are absent in heterologous host cells used in vitro.