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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
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Journal Article
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
2016
Overview
Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in
NR1H4
, which encodes the farnesoid X receptor (FXR), a bile acid-activated nuclear hormone receptor that regulates bile acid metabolism. Clinical features of severe, persistent
NR1H4
-related cholestasis include neonatal onset with rapid progression to end-stage liver disease, vitamin K-independent coagulopathy, low-to-normal serum gamma-glutamyl transferase activity, elevated serum alpha-fetoprotein and undetectable liver bile salt export pump (
ABCB11
) expression. Our findings demonstrate a pivotal function for FXR in bile acid homeostasis and liver protection.
Neonatal cholestasis is a result of elevated bile acid levels, and is associated with mutations in genes regulating bile acid homeostasis. Here the authors identify mutations in the bile acid sensing farnesoid X receptor in four individuals with neonatal cholestasis from two unrelated families.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ ATP Binding Cassette Subfamily B Member 11
/ ATP-Binding Cassette Transporters - genetics
/ ATP-Binding Cassette Transporters - metabolism
/ Bile Acids and Salts - metabolism
/ Cholestasis, Intrahepatic - genetics
/ Cholestasis, Intrahepatic - metabolism
/ Female
/ Humanities and Social Sciences
/ Humans
/ Male
/ Mutation
/ Receptors, Cytoplasmic and Nuclear - genetics
/ Receptors, Cytoplasmic and Nuclear - metabolism
/ Science
