Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology

Thorax. 2004 Jun;59(6):529-35. doi: 10.1136/thx.2003.006528.

Abstract

The molecular basis of alpha(1)-antitrypsin deficiency is reviewed and is shown to be due to the accumulation of mutant protein as ordered polymers within the endoplasmic reticulum of hepatocytes. The current goals are to determine the cellular response to polymeric alpha(1)-antitrypsin and to develop therapeutic strategies to block polymerisation in vivo.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Liver Diseases / metabolism*
  • Lung Diseases / metabolism*
  • Mutation
  • Polymers / chemistry
  • alpha 1-Antitrypsin / chemistry*
  • alpha 1-Antitrypsin Deficiency / genetics
  • alpha 1-Antitrypsin Deficiency / metabolism*

Substances

  • Polymers
  • alpha 1-Antitrypsin