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Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
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Pulmonary Function Modulates Epigenetic Age in Subjects with Cystic Fibrosis.
Alice Castaldo1,2, Mariella Cuomo3,4, Paola Iacotucci5
1SC di Pneumologia e UTSIR, AORN Santobono-Pausilipon, 80129 Naples, Italy.
International Journal of Molecular Sciences
|July 29, 2025
Summary
Epigenetic age in cystic fibrosis (CF) patients correlates with lung function. Elexacaftor/tezacaftor/ivacaftor (ETI) therapy improved epigenetic age and lung function, suggesting early intervention is crucial for better outcomes.
Area of Science:
- Biochemistry
- Genetics
- Pulmonology
Background:
- Cystic fibrosis (CF) is a severe autosomal recessive disease affecting Caucasians.
- Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulators have improved patient outcomes.
- Epigenetic age is a novel biomarker for biological aging.
Purpose of the Study:
- To investigate epigenetic age using the Horvath clock model in adult CF patients treated with elexacaftor/tezacaftor/ivacaftor (ETI).
- To assess the correlation between epigenetic age, lung function (FEV1), and response to ETI therapy.
- To explore the potential of epigenetic age as a biomarker for predicting individual therapeutic outcomes in CF.
Main Methods:
- Application of the Horvath clock model to determine epigenetic age in 52 adult CF subjects at baseline (T0) and after one year of ETI therapy (T1).
- Evaluation of lung function using forced expiratory volume in one second (FEV1).
- Comparison of epigenetic age and lung function between patients with accelerated and non-accelerated epigenetic aging.
Main Results:
- At baseline, half of the CF subjects exhibited accelerated epigenetic age and poorer lung function (FEV1).
- One year of ETI therapy improved both epigenetic age and lung function, particularly in subjects with initially impaired lung function.
- CF subjects with lower epigenetic age at baseline showed better lung function maintenance and further improvement with ETI, alongside increased well-being and physical activity.
Conclusions:
- ETI therapy positively impacts epigenetic age and lung function in CF patients.
- Early initiation of CFTR modulator therapy is recommended, especially for individuals with compromised lung function.
- Epigenetic age analysis shows promise as a biomarker for assessing individual therapeutic responses and outcomes in cystic fibrosis.
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