TTF-1 Defect and Surfactant Homeostasis in an Infant
Author Information
Author(s): Peca Donatella, Petrini Stefania, Tzialla Chryssoula, Boldrini Renata, Morini Francesco, Stronati Mauro, Carnielli Virgilio P, Cogo Paola E, Danhaive Olivier
Primary Institution: Bambino Gesù Children's Hospital IRCCS, Rome, Italy
Hypothesis
Can a defect in TTF-1 lead to recurrent respiratory failure due to altered surfactant homeostasis?
Conclusion
Defective TTF-1 signaling may disrupt surfactant homeostasis and contribute to neonatal lung disease.
Supporting Evidence
- Lung biopsy showed abnormalities suggestive of genetic surfactant deficiency.
- A novel heterozygous ABCA3 mutation was identified.
- TTF-1 was predominantly expressed in the cytoplasm instead of the nucleus.
- SP-B synthesis was significantly reduced in the patient compared to controls.
- DSPC synthesis was higher in the patient than in controls.
Takeaway
A baby had trouble breathing because of a problem with a protein that helps keep the lungs working properly. This problem was linked to a genetic mutation.
Methodology
The study involved genetic sequencing, lung biopsy, and analysis of surfactant protein expression and kinetics.
Limitations
The study is based on a single case, limiting generalizability.
Participant Demographics
The participant was a first male child of East European descent, born at 40 weeks of gestation.
Digital Object Identifier (DOI)
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