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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

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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.
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,...
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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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Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice
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Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.

Annalisa Orenti1, Iwona Pranke2, Caroline Faucon3

  • 1Department of Clinical Sciences and Community Health, Laboratory of Medical Statistics, Biometry and Epidemiology "G. A. Maccacaro", University of Milan, Milan, Italy.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|July 8, 2023
PubMed
Summary
This summary is machine-generated.

People with Cystic Fibrosis (pwCF) with two nonsense mutations (PTC/PTC) experience faster lung function decline and higher mortality. This study highlights the severe impact of PTC/PTC mutations on CF progression and survival.

Keywords:
Cystic fibrosis (MeSH: DO008550)Cystic fibrosis transmembrane conductance regulator (MeSH: DO19005)Premature termination codon (MeSH: DO:18389)

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Area of Science:

  • Pulmonology
  • Genetics
  • Medical Research

Background:

  • Limited data exists on the clinical status of individuals with Cystic Fibrosis (CF) who carry two nonsense mutations (PTC/PTC).
  • Understanding the disease severity associated with different CFTR mutation types is crucial for patient management and therapeutic development.

Purpose of the Study:

  • To compare disease severity in people with Cystic Fibrosis (pwCF) with two nonsense mutations (PTC/PTC) against those with compound heterozygous (F508del/PTC) and homozygous (F508del/F508del) F508del mutations.
  • To assess CFTR mRNA and protein activity in nasal epithelial cells of pwCF with PTC/PTC mutations.

Main Methods:

  • Retrospective analysis of clinical data from the European CF Society Patient Registry for pwCF in high and middle-income countries.
  • Comparison of disease progression metrics (e.g., FEV1 decline, mortality, Pseudomonas aeruginosa infection rates) across different CFTR mutation groups.
  • Assessment of CFTR mRNA and protein activity in primary human nasal epithelial (HNE) cells from 22 pwCF with PTC/PTC mutations.

Main Results:

  • pwCF with PTC/PTC and F508del/PTC mutations showed a significantly faster decline in Forced Expiratory Volume in 1 second (FEV1) from childhood into adulthood compared to F508del/F508del.
  • Mortality rates were significantly higher in pediatric pwCF with one or two PTC alleles versus F508del homozygous pairs.
  • Pseudomonas aeruginosa infection was more frequent in PTC/PTC individuals, and CFTR activity in their nasal cells was minimal (0-3% of wild-type).

Conclusions:

  • Nonsense mutations, particularly in the PTC/PTC genotype, significantly decrease survival and accelerate respiratory disease progression in children and adolescents with Cystic Fibrosis.
  • These findings underscore the severe clinical impact of PTC/PTC mutations in CF.
  • Targeted therapies for PTC/PTC mutations are warranted to improve outcomes.