Nuclear receptor FXR, bile acids and liver damage: Introducing the progressive familial intrahepatic cholestasis with FXR mutations

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

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),...

Intestinal nuclear bile acid receptor FXR and cholestasis.

published under permission of Elsevier provided by Copyright Clearence Center

Fatty liver diseases, bile acids, and FXR

The prevalence of nonalcoholic fatty liver disease (NAFLD) worldwide has increased at an alarming rate, which will likely result in enormous medical and economic burden. NAFLD presents as a spectrum of liver diseases ranging from simple steatosis, nonalcoholic steatohepatitis (NASH), fibrosis, cirrhosis, and even to hepatocellular carcinoma (HCC). A comprehensive understanding of the mechanism(...

EnginEEring and natural SciEncES FXR as a Drug Target to Treat Progressive Familial Intrahepatic Cholestasis

Progressive Familial Intrahepatic Cholestasis (PFIC) is a condition that results in the cirrhosis of the liver and eventually liver failure due to impaired bile flow. If left untreated and even if treated, PFIC will result usually in an early death. While the causes of this disease vary, all types present with a similar symptoms and eventual prognosis. There are four main proposed subtypes of i...

Progressive Familial Intrahepatic Cholestasis