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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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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.
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The transport of solutes across the cell membrane is essential for metabolic processes, like maintaining cell size and volume, generating the action potential, exchanging nutrients and gases, etc. Membrane transport can be either passive or active. It can be simple diffusion, facilitated, or mediated transport aided by transport proteins such as transporters and channels.
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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.
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Related Experiment Video

Updated: Jan 3, 2026

Functional Reconstitution and Channel Activity Measurements of Purified Wildtype and Mutant CFTR Protein
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CFTR: New insights into structure and function and implications for modulation by small molecules.

Bertrand Kleizen1, John F Hunt2, Isabelle Callebaut3

  • 1Cellular Protein Chemistry, Department of Chemistry, Utrecht University, Utrecht, the Netherlands.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|November 25, 2019
PubMed
Summary
This summary is machine-generated.

Clinically-approved drugs restore function to the cystic fibrosis transmembrane conductance regulator (CFTR), improving outcomes for cystic fibrosis (CF) patients. Further research into CFTR structure and function is needed for developing next-generation therapies.

Keywords:
ABC-transporterClinical drugsCystic fibrosisF508delMembrane proteinMutationsTherapy

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Area of Science:

  • Structural biology
  • Molecular mechanisms
  • Protein function

Background:

  • Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene.
  • The CFTR protein is a crucial ion channel.
  • Understanding CFTR is key to developing effective treatments.

Purpose of the Study:

  • To review recent advances in CFTR structural biology and functional studies.
  • To discuss the impact of current CFTR-targeting therapies.
  • To highlight the need for continued research in CFTR structure-function relationships.

Main Methods:

  • Literature review of structural biology studies.
  • Analysis of functional data for CFTR.
  • Discussion of drug mechanisms of action.

Main Results:

  • Clinically-approved drugs can restore function to mutant CFTR proteins.
  • These therapies have led to improved clinical outcomes in CF patients.
  • Significant progress has been made in understanding CFTR structure.

Conclusions:

  • CFTR-targeting therapies offer promise for most CF mutations.
  • Continued research is essential for developing improved CFTR modulators.
  • Achieving full comprehension of CFTR structure-function will enable better drug development for cystic fibrosis.