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BSEP: function and role in progressive familial intrahepatic cholestasis
1Department of Child Health, Guy's, King's, and St. Thomas' School of Medicine, King's College Hospital, London, UK. richard.j.thompson@kcl.ac.uk
Seminars in Liver Disease
|December 18, 2001
Summary
Mutations in the bile salt export pump (BSEP) gene (ABCB11) cause progressive familial cholestasis type 2 (PFIC-2) in children. Understanding BSEP function is key to treating this severe liver disease.
Area of Science:
- Hepatology
- Molecular Biology
- Genetics
Background:
- Bile acid secretion drives bile flow in mammals.
- The bile salt export pump (BSEP) actively transports bile acids into bile.
- BSEP is encoded by the ABCB11 gene.
Purpose of the Study:
- To elucidate the role of BSEP in bile acid transport.
- To understand the genetic basis of progressive familial cholestasis type 2 (PFIC-2).
Main Methods:
- Analysis of the bile salt export pump (BSEP) structure and function.
- Identification and characterization of mutations in the ABCB11 gene.
Main Results:
- Mutations in ABCB11 cause PFIC-2, a severe pediatric cholestatic disorder.
- PFIC-2 is characterized by pruritus, growth failure, and early cirrhosis.
Conclusions:
- BSEP is critical for bile acid secretion and maintaining liver health.
- Genotype/phenotype correlations in ABCB11 mutations are under investigation.