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 Experiment Videos

Mutation specific therapy in CF.

Eitan Kerem1

  • 1Department of Pediatrics and Cystic Fibrosis Center, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel. ek@cc.huji.ac.il

Paediatric Respiratory Reviews
|June 27, 2006
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Post-infectious bronchiolitis obliterans in children: pathogenesis, treatment strategies, and future directions.

Current opinion in pediatrics·2026
Same author

Clinical characteristics and outcomes in the adult cystic fibrosis population in Europe from 2014 to 2024: analysis of the European Cystic Fibrosis Society Patient Registry.

The Lancet. Respiratory medicine·2026
Same author

Henry Levison, a Giant of Pediatric Respiratory Medicine.

Pediatric pulmonology·2026
Same author

Author Correction: Phage therapy with nebulized cocktail BX004-A for chronic Pseudomonas aeruginosa infections in cystic fibrosis: a randomized first-in-human trial.

Nature communications·2026
Same author

Intestinal organoids as a platform for functional evaluation of ASO-mediated splicing modulation in cystic fibrosis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2026
Same author

The response of rare CFTR mutations to specific modulator combinations.

ERJ open research·2025
Same journal

Image-guided pediatric airway endoscopy: A review.

Paediatric respiratory reviews·2026
Same journal

Bronchoscopic and interventional management of tracheobronchomalacia in children with bronchopulmonary dysplasia: a review of evidence.

Paediatric respiratory reviews·2026
Same journal

Hand in glove: New imaging techniques and airway endoscopy.

Paediatric respiratory reviews·2026
Same journal

Bronchopulmonary dysplasia associated pulmonary hypertension: implications across the lifespan.

Paediatric respiratory reviews·2026
Same journal

How to monitor response to biologics in children with severe asthma.

Paediatric respiratory reviews·2026
Same journal

Moving the goalposts from symptom control to preventing airway remodeling in preschool asthma.

Paediatric respiratory reviews·2026
See all related articles

Targeted therapies for cystic fibrosis (CF) are being developed based on classifying CFTR mutations by their molecular mechanism. Understanding these classes aids in creating mutation-specific treatments for CFTR protein dysfunction.

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Cystic Fibrosis (CF) is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene.
  • These mutations lead to CFTR protein dysfunction through various molecular mechanisms.
  • Classifying CFTR mutations is crucial for developing targeted therapies.

Purpose of the Study:

  • To categorize CFTR mutations based on their distinct molecular mechanisms of action.
  • To provide a scientific foundation for developing mutation-specific therapeutic strategies for CF.
  • To explore potential pharmacological interventions for each mutation class.

Main Methods:

  • Classification of CFTR mutations into five classes (I-V) based on their impact on protein production, processing, function, and splicing.

Related Experiment Videos

  • Review of existing and potential therapeutic strategies, including drug classes like aminoglycoside antibiotics, chemical chaperones, and CFTR activators.
  • Analysis of how different molecular defects influence protein stability, transport, and channel activity.

    • Main Results:

    • Class I: Nonsense mutations leading to premature stop codons. Aminoglycosides may suppress termination.
    • Class II: Processing and folding defects. Chaperones like Sodium-4-phenylbutyrate can aid transport.
    • Class III: Regulatory domain dysfunction. Activators (e.g., CPX, genistein) can enhance ATP binding.
    • Class IV: Reduced chloride transport due to altered conductance. Modulators may improve cell surface function.
    • Class V: Splicing defects affecting transcript levels. Splicing factors could increase correct transcripts.

    Conclusions:

    • Understanding the molecular basis of CFTR dysfunction is key to personalized medicine for CF.
    • Different classes of CFTR mutations require distinct therapeutic approaches.
    • Pharmacological agents targeting specific molecular defects show promise for treating CF.