Review: α1-Antitrypsin deficiency associated liver disease

Dongfeng Qu, Jeffrey H. Teckman, David H. Perlmutter

Research output: Contribution to journalReview articlepeer-review

41 Scopus citations

Abstract

α-Antitrypsin (α1-AT) deficiency is the most common genetic cause of liver disease in children and genetic disease for which children undergo liver transplantation. It also causes cirrhosis and hepatocellular carcinoma in adults. Studies by Sveger in Sweden have shown that only a subgroup of the population with homozygous PiZZ α1-AT deficiency develop clinically significant liver injury. Other studies have shown that the mutant α1-AT Z molecule undergoes polymerization in the endoplasmic reticulum and that a subpopulation of α1-AT-deficient individuals may be susceptible to liver injury because they also have a trait that reduces the efficiency by which the mutant α1-AT Z molecule is degraded in the endoplasmic reticulum.

Original languageEnglish
Pages (from-to)404-416
Number of pages13
JournalJournal of Gastroenterology and Hepatology (Australia)
Volume12
Issue number5
DOIs
StatePublished - Jan 1 1997

Keywords

  • endoplasmic reticulum degradation
  • liver disease

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