Alpha 1-Antitrypsin Scarcity linked with Hepatic Disease

Abstract

Alpha 1-Antitrypsin (AAT) insufficiency is the most common genetic cause of hepatic disease in children and genetic disease for which children undergo hepatic transplantation. It also causes cirrhosis and hepatocellular carcinoma in adults. Mutant Alpha 1 Antitrypsin Z molecule undergoes polymerization in the endoplasmic reticulum and that a subpopulation of Alpha Antitrypsin deficient individuals may be susceptible to hepatic injury because they also have a trait that reduces the efficiency by which the mutant Alpha Antitrypsin Z molecule is degraded in the endoplasmic reticulum.