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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

679
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,...
679
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

443
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...
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Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
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L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?

Elena Kondratyeva1, Anna Efremova1, Yuliya Melyanovskaya1

  • 1Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.

International Journal of Molecular Sciences
|December 11, 2025
PubMed
Summary

CFTR modulators show efficacy in cystic fibrosis patients with complex genotypes, including a class I variant. This study demonstrates personalized treatment selection for twins with a rare L467F;F508del/CFTRdele2,3 genotype.

Keywords:
CFTR geneF508delL467Fcomplex allelecystic fibrosisintestinal current measurementintestinal organoidspancreatitistargeted therapy

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Area of Science:

  • Medical Genetics
  • Pharmacology
  • Pulmonology

Background:

  • Cystic Fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene.
  • CFTR modulators improve outcomes for patients with common CFTR variants like F508del.
  • Complex CFTR alleles, with multiple variants in cis, can alter protein function and modulator response.

Purpose of the Study:

  • To evaluate the clinical and in vitro efficacy of CFTR modulators in siblings with a complex CFTR genotype (L467F;F508del/CFTRdele2,3).
  • To demonstrate the effectiveness of a novel CFTR modulator in a patient population with a complex allele and a class I variant.
  • To guide personalized treatment strategies for CF patients harboring complex alleles.

Main Methods:

  • Case study of monochorionic diamniotic twins with cystic fibrosis and the L467F;F508del/CFTRdele2,3 genotype.
  • Assessment of CFTR channel function in vitro.
  • Personalized selection and administration of CFTR modulators.

Main Results:

  • Demonstrated efficacy of CFTR modulators in treating cystic fibrosis in patients with the complex L467F;F508del/CFTRdele2,3 genotype.
  • Successful application of a new CFTR modulator in a patient with a class I variant and complex allele.
  • Positive clinical outcomes and improved CFTR channel function observed.

Conclusions:

  • CFTR modulators can be effective in patients with complex CFTR genotypes, including those with class I variants.
  • Personalized modulator selection is crucial for optimizing treatment in rare and complex CF cases.
  • These findings support tailored therapeutic approaches for cystic fibrosis patients with complex alleles.