Biliary atresia susceptibility gene EFEMP1 regulates extrahepatic bile duct elastic fiber formation and mechanics
The gene EFEMP1 was found via a genome-wide association study to be a susceptibility gene for the neonatal disease biliary atresia. EFEMP1 encodes the protein fibulin-3, which regulates elastic fiber organization in the extrahepatic bile duct (EHBD), the major site of disease in biliary atresia. We showed that neonatal EHBDs as well as mice heterozygous for <i>Efemp1</i> have decreased numbers of elastic fibers, and that this alters EHBD mechanics. This work is important for understanding the mechanism of biliary atresia, in particular susceptibility to obstruction.
Authors
- Emilia Roberts
- Jessica Llewellyn
- Rebecca G. Wells (ORCID: https://orcid.org/0000-0002-6988-4102)
- Kapish Gupta
- Ali Naji (ORCID: https://orcid.org/0000-0002-6926-3306)
- Richard K. Assoian (ORCID: https://orcid.org/0000-0001-7635-6204)
- Chengyang Liu (ORCID: https://orcid.org/0000-0002-5802-1547)
Institutions
- Translational Therapeutics (United States) (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- JHEP Reports
- Published
- 2024-09-08
- DOI
- https://doi.org/10.1016/j.jhepr.2024.101215
- Citations
- 6
- Primary Topic
- Pediatric Hepatobiliary Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 3.44
Funders
- National Science Foundation
- University of Pennsylvania
- City of Hope
- National Institutes of Health
- Perelman School of Medicine, University of Pennsylvania
- National Institute of Diabetes and Digestive and Kidney Diseases
- Division of Civil, Mechanical and Manufacturing Innovation