Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal-recessive liver disorder. Patients with PFIC3 present with cholestasis at a young age, which progresses to cirrhosis and end-stage liver disease before adulthood.1 –3 PFIC3 is caused by impairment of phosphatidylcholine (PC) translocation to bile by the canalicular membrane protein ATP binding cassette subfamily B member 4 (ABCB4), formerly known as multidrug resistance protein 3 (MDR3), encoded by the ABCB4 gene.4–6 In bile, PC is essential in the formati on of mixed micelles with bile salts that protect the lining of the biliary tree from the detergent properties of bile salts.

Source: Journal of Hepatology - March 28, 2019 Category: Gastroenterology Authors: Sem J. Aronson, Robert S. Bakker, Xiaoxia Shi, Suzanne Duijst, Lysbeth ten Bloemendaal, Dirk R. de Waart, Joanne Verheij, Giuseppe Ronzitti, Ronald P. Oude Elferink, Ulrich Beuers, Coen C. Paulusma, Piter J. Bosma Source Type: research