Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Approaches and Future Directions.

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.

Summary

A1ATD is the leading genetic cause of liver disease among children. It is a protein-folding disorder in which toxic insoluble ATZ proteins aggregate in the ER of hepatocytes leading to inflammation, fibrosis, cirrhosis, and increased ri

SUBMITTER: Mitchell EL 

PROVIDER: S-EPMC5780543 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature