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Autophagy-related genes expression in children with cystic fibrosis

Eman Mahmoud Fouda1, Heba M Hamza1, Sylvia Micheal Hana1

  • 1Pediatrics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Respiratory Medicine
|November 8, 2025
PubMed
Abstract

Insights

Autophagy pathways are impaired in children with cystic fibrosis (CF), with reduced Beclin-1 and elevated mTOR and LC3b gene expression. These findings highlight potential therapeutic targets for CF treatment.

Area of Science:

  • Cellular Biology
  • Molecular Biology
  • Genetics

Background:

  • Autophagy is a cellular process crucial for removing damaged proteins, regulated by mTOR, Beclin-1, and LC3.
  • Cystic Fibrosis (CF) is characterized by defective autophagy, proteostasis imbalance, and chronic inflammation.
  • Understanding autophagy gene expression in CF is vital for disease management.

Purpose of the Study:

  • To investigate the gene expression of mTOR, Beclin-1, and LC3b in pediatric CF patients.
  • To correlate these gene expressions with CF genotypes, phenotypes, and clinical severity.
  • To elucidate the role of autophagy in the pathophysiology of CF in children.

Main Methods:

  • A cross-sectional study involving 31 CF patients and 31 healthy controls.
  • Quantitative PCR was used to measure gene expression levels of Beclin-1, mTOR, and LC3b.
  • Clinical severity was assessed using pulmonary function tests, Schwachman-Kulczycki score, and other clinical data.

Main Results:

  • Beclin-1 expression was significantly lower in CF patients compared to controls.
  • mTOR and LC3b gene expression levels were significantly elevated in CF patients.
  • Elevated LC3b correlated with specific CF complications like meconium ileus and intestinal obstruction.

Conclusions:

  • CF patients exhibit significantly reduced Beclin-1 expression, indicating impaired autophagy.
  • Elevated LC3b and mTOR expression levels in CF children suggest a disruption of autophagy pathways.
  • These molecular alterations in autophagy may contribute to CF pathogenesis and severity.
Keywords:
AutophagyBeclinCystic fibrosisLC3mTOR

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