Genetic cholestasis in children and adults

Bile is produced in hepatocytes and flows to the duodenum. Cholestasis can ensue when there is either a reduction in bile flow or obstruction at any level. Proteins, including nuclear receptors, hepatobiliary transporters and structural proteins, are vital for the transport of biliary constituents and maintenance of the stability of the canalicular membrane and tight  junctions. Variants in genes encoding these proteins have been implicated in the pathogenesis of cholestasis, predominantly intrahepatic cholestasis with retention of bile acids within the liver.
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Hepatology Snapshot Source Type: research