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Related Concept Videos

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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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.
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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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Related Experiment Video

Updated: Sep 12, 2025

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A novel gene therapy for ARPKD based on CFTR.

Cristian Ciobanu1,2, Patricia Outeda3, William B Guggino2

  • 1Department of Medicine, Johns Hopkins University, Baltimore, Maryland, United States.

American Journal of Physiology. Gastrointestinal and Liver Physiology
|August 5, 2025
PubMed
Summary

Gene therapy using adeno-associated virus (AAV1) targeting abnormal bile ducts shows promise for treating autosomal recessive polycystic kidney disease (ARPKD). This approach reduced cyst size and area in mouse models, offering a potential therapeutic strategy.

Keywords:
AAV1ARPKDCFTRcystssialic acid

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Area of Science:

  • Genetics and Molecular Biology
  • Hepatology and Gastroenterology
  • Pediatric Nephrology

Background:

  • Autosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder characterized by abnormal bile ducts leading to cyst formation in the liver and kidneys.
  • Current treatments for ARPKD are limited, focusing on managing symptoms and complications, highlighting the need for novel therapeutic strategies.
  • The apical surface of cyst-derived cholangiocytes in ARPKD exhibits high levels of specific sialic acid moieties (MAL), suggesting a potential target for gene therapy vectors.

Purpose of the Study:

  • To investigate the feasibility and therapeutic potential of gene therapy targeting abnormal bile ducts in ARPKD.
  • To evaluate the efficacy of an adeno-associated virus (AAV1) vector carrying a truncated cystic fibrosis transmembrane conductance regulator (CFTR) gene in reducing liver cyst burden in a mouse model of ARPKD.
  • To identify optimal targets for AAV gene therapy delivery within the context of ARPKD pathology.

Main Methods:

  • Intraperitoneal injection of adeno-associated virus serotype 1 (AAV1) vectors encoding either GFP or a truncated CFTR (Δ27-264-CFTR) into 1-month-old Pkhd1del3-4/del3-4 mice, a model for ARPKD.
  • Assessment of liver cyst area and size two months post-treatment.
  • Detection of vector genomes and mRNA expression via molecular methods, and protein localization via immunofluorescence, including sialic acid staining with Maackia amurensis lectin (MAL) and Sambucus nigra lectin (SNA).

Main Results:

  • Mice treated with the CFTR vector exhibited significantly reduced liver cyst area and size compared to those treated with the GFP vector or untreated controls.
  • Vector genomes and corresponding mRNA expression were detected only in mice receiving the respective vectors, confirming successful gene delivery.
  • Immunofluorescence confirmed the presence of GFP and CFTR proteins in cholangiocytes, with CFTR showing altered localization from apical to basolateral membranes post-treatment, and MAL lectin staining highlighted cyst surfaces as a target.

Conclusions:

  • Gene therapy using an AAV1-based vector delivering a truncated CFTR is a feasible and potentially therapeutic strategy for ARPKD.
  • Targeting abnormal bile ducts, particularly the sialic acid-rich apical surfaces of cyst-lining cholangiocytes, is effective for AAV gene therapy delivery in ARPKD.
  • This study provides a promising preclinical foundation for developing gene-based treatments to alleviate the liver pathology associated with ARPKD.