Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
, 22 (4), 643-655

Alpha-1-Antitrypsin Deficiency Liver Disease

Affiliations
Review

Alpha-1-Antitrypsin Deficiency Liver Disease

Dhiren Patel et al. Clin Liver Dis.

Abstract

In homozygous ZZ alpha-1-antitrypsin (AAT) deficiency, the liver synthesizes large quantities of AAT mutant Z, which folds improperly during biogenesis and is retained within the hepatocytes and directed into intracellular proteolysis pathways. These intracellular polymers trigger an injury cascade, which can lead to liver injury. This is highly variable and not all patients develop liver disease. Although not fully described, there is likely a strong influence of genetic and environmental modifiers of the injury cascade and of the fibrotic response. With improved understanding of liver injury mechanisms, new strategies for treatment are now being explored.

Keywords: Alpha 1 antitrypsin; Autophagy; ERAD; Protein polymer; Proteolysis; siRNA.

Similar articles

See all similar articles

Cited by 6 articles

See all "Cited by" articles

Substances

Feedback