Mitchell, E.L. & Khan, Z. “Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Approaches and Future Directions.” Current Pathobiology Reports (2017). doi:10.1007/s40139-017-0147-5.
ABSTRACT: Purpose of Review–The aim of the study is to review the liver disease caused by alpha-1 antitrypsin deficiency (A1ATD), including pathogenesis, epidemiology, diagnostic testing, and recent therapeutic developments.
Recent Findings–Therapeutic approaches target several intracellular pathways to reduce the cytotoxic effects of the misfolded mutant globular protein (ATZ) on the hepatocyte. These include promoting ATZ transport out of the endoplasmic reticulum (ER), enhancing ATZ degradation, and preventing ATZ globule-aggregation.