Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

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...
Overview of Secretory Vesicles01:33

Overview of Secretory Vesicles

Secretory vesicles, also known as dense core vesicles (DCVs), are membrane-bound vesicles that transport secretory proteins, such as hormones or neurotransmitters. Regulated secretory vesicles transport proteins from the trans-Golgi network to the exterior of the cell. Proteins present in regulated secretory vesicles are required to be rapidly exocytosed in large amounts upon a specific stimulus.
Various proteins regulate the aggregation of molecules inside the secretory vesicles. Chromogranins...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Tumor-Infiltrating Nociceptor Neurons in Ovarian Cancer Treatment Resistance.

Advanced biology·2026
Same author

Rete ridges form via evolutionarily distinct mechanisms in mammalian skin.

Nature·2026
Same author

Molecular Prosthetics and CFTR Modulators Additively Increase Secretory HCO<sub>3</sub><sup>-</sup> Flux in Cystic Fibrosis Airway Epithelia.

ACS chemical biology·2025
Same author

Rewriting the Chapter on Cystic Fibrosis: The 2025 Lasker-DeBakey Clinical Medical Research Award.

JAMA·2025
Same author

Molecular prosthetics for CFTR designed for anion selectivity outperform amphotericin B in cultured cystic fibrosis airway epithelia.

bioRxiv : the preprint server for biology·2025
Same author

A dose-finding study shows terazosin enhanced energy metabolism in neurologically healthy adults.

Journal of Parkinson's disease·2025

Related Experiment Video

Updated: Jul 11, 2026

Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
15:12

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

Published on: May 10, 2014

Processing and function of CFTR-DeltaF508 are species-dependent.

Lynda S Ostedgaard1, Christopher S Rogers, Qian Dong

  • 1Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa, Iowa City, IA 52242, USA.

Proceedings of the National Academy of Sciences of the United States of America
|September 18, 2007
PubMed
Summary

The common cystic fibrosis mutation DeltaF508 impairs CFTR protein function across species. However, pig and mouse CFTR-DeltaF508 show less severe processing defects than human, offering insights into disease mechanisms and therapeutic strategies.

More Related Videos

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

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

Published on: March 9, 2015

In Vitro Analysis of PDZ-dependent CFTR Macromolecular Signaling Complexes
10:05

In Vitro Analysis of PDZ-dependent CFTR Macromolecular Signaling Complexes

Published on: August 13, 2012

Related Experiment Videos

Last Updated: Jul 11, 2026

Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
15:12

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

Published on: May 10, 2014

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

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

Published on: March 9, 2015

In Vitro Analysis of PDZ-dependent CFTR Macromolecular Signaling Complexes
10:05

In Vitro Analysis of PDZ-dependent CFTR Macromolecular Signaling Complexes

Published on: August 13, 2012

Area of Science:

  • Molecular Biology
  • Genetics
  • Physiology

Background:

  • Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
  • The most prevalent mutation, DeltaF508, leads to protein misfolding, endoplasmic reticulum retention, and degradation, preventing CFTR from reaching the cell surface.
  • This processing defect impairs chloride transport and contributes to cystic fibrosis pathology.

Purpose of the Study:

  • To investigate the cross-species impact of the DeltaF508 mutation on CFTR processing and function.
  • To compare the severity of the DeltaF508 processing defect in human, pig, and mouse CFTR.
  • To evaluate the potential of pig and mouse CFTR-DeltaF508 in restoring epithelial chloride transport.

Main Methods:

  • Comparative analysis of human, pig, and mouse CFTR-DeltaF508 proteins.
  • Assessment of protein processing and trafficking.
  • Measurement of single-channel activity.
  • Evaluation of transepithelial chloride transport in cystic fibrosis airway epithelia.

Main Results:

  • The DeltaF508 mutation reduced single-channel activity in human, pig, and mouse CFTR.
  • Pig and mouse CFTR-DeltaF508 proteins exhibited partial processing, unlike the human counterpart which is largely retained in the ER.
  • CFTR-DeltaF508 from pigs and mice partially restored transepithelial chloride transport in CF airway epithelia.

Conclusions:

  • A gradient in the severity of CFTR-DeltaF508 processing defects exists, with human CFTR being more severely affected than pig or mouse CFTR.
  • These findings may explain discrepancies observed in mouse models of cystic fibrosis.
  • The study suggests new avenues for understanding CFTR processing mechanisms and for evaluating therapeutic interventions.