Gene Therapy Potential for Genetic Disorders of Surfactant Dysfunction

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Ashley L Cooney1,2, Jennifer A Wambach3, Patrick L Sinn1,2

  • 1Department of Pediatrics, The University of Iowa, Iowa City, IA, United States.

Frontiers in Genome Editing
|January 31, 2022
PubMed

Insights

Severe respiratory distress syndrome in infants can stem from genetic causes affecting pulmonary surfactant proteins SP-B, SP-C, and ABCA3. Gene therapy offers a promising treatment approach for these monogenic lung diseases.

Area of Science:

  • Pulmonary medicine
  • Genetics
  • Molecular biology

Background:

  • Pulmonary surfactant is crucial for lung function, preventing alveolar collapse.
  • Severe respiratory distress syndrome (RDS) in term infants often indicates genetic causes related to surfactant dysfunction.
  • Pathogenic variants in SFTPB, SFTPC, and ABCA3 genes lead to severe neonatal RDS or childhood interstitial lung disease (chILD).

Purpose of the Study:

  • To review gene therapy strategies for monogenic lung diseases caused by surfactant dysfunction.
  • To explore viral vector delivery systems for targeting alveolar epithelial type II cells (AEC2).
  • To compare gene addition and gene editing approaches for treating SFTPB, SFTPC, and ABCA3 related lung disorders.

Main Methods:

  • Review of adeno-associated virus (AAV), lentiviral, and adenoviral (Ad) vectors for gene delivery.
  • Comparison of gene addition and gene editing therapeutic strategies.
  • Focus on targeting alveolar epithelial type II cells (AEC2) for gene therapy.

Main Results:

  • Gene therapy presents a promising avenue for treating genetic surfactant dysfunction disorders.
  • Viral vector design and cell tropism are key challenges in developing effective lung gene therapies.
  • Both gene addition and gene editing show potential for correcting mutations in SFTPB, SFTPC, and ABCA3.

Conclusions:

  • Genetic disorders affecting pulmonary surfactant proteins (SP-B, SP-C, ABCA3) are significant causes of neonatal RDS and chILD.
  • Gene therapy, utilizing various viral vectors and strategies, holds promise for treating these monogenic lung diseases.
  • Further research into vector optimization and delivery is essential for successful clinical translation.

Keywords:
AEC2AT2ATIIalveolipulmonary diseasesurfactant deficiencyviral vectors

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