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Published on: August 15, 2019
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Mutations in TJP2, encoding zona occludens 2, and liver disease
Melissa Sambrotta1, Richard J Thompson2
1Institute of Liver Studies; Division of Transplantation Immunology and Mucosal Biology ; King's College London ; London, UK.
Tissue Barriers
|October 10, 2015
Summary
Tight junction protein 2 (TJP2) deficiency causes severe liver disease in children, unlike its absence in mice. This highlights species and human epithelial differences in TJP2 function.
Area of Science:
- Hepatology
- Genetics
- Molecular Biology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) encompasses various genetic disorders affecting liver function.
- Identifying genetic defects in PFIC elucidates critical liver physiology pathways.
- Tight junction protein 2 (TJP2) deficiency is a newly identified genetic cause of PFIC.
Purpose of the Study:
- To discuss the implications of TJP2 deficiency in PFIC.
- To highlight the role of TJP2 in human liver disease and compare it with animal models.
Main Methods:
- Review of clinical presentations of patients with TJP2 deficiency.
- Analysis of genetic mutations (homozygous, protein-truncating) leading to TJP2 absence.
- Comparison with data from TJP2 knockout mouse models.
Main Results:
- Children with TJP2 deficiency present with severe liver disease, sometimes with extrahepatic manifestations.
- Complete absence of TJP2 protein is observed in affected patients.
- TJP2 knockout mice exhibit embryonic lethality, contrasting with human disease presentation.
Conclusions:
- TJP2 deficiency represents a significant genetic etiology for pediatric liver disease.
- Significant differences exist in TJP2's role between human epithelia and in mouse models.
- This finding underscores species-specific variations in the function of tight junction proteins.
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