α1-antitrypsin deficiency and liver disease

P. Birrer, N. G. McElvaney, L. M. Chang-Stroman, Ronald Crystal

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

α1-Antitrypsin (α1AT) deficiency, one of the most common lethal hereditary disorders among Caucasians, is associated with emphysema in adults, while in children it is associated with liver disease. Produced in the liver and released into the plasma, α1AT serves as the body's major inhibitor of neutrophil elastase, a powerful proteolytic enzyme capable of degrading extracellular structural proteins. The pathogenesis of the liver disease associated with α1AT deficiency is not as well understood, but is clearly linked to specific mutations in coding exons of the α1AT gene, and the resulting accumulation of α1AT within hepatocytes. At present, therapy for the liver disease associated with α1AT deficiency is symptomatic, with liver transplantation as a last resort. New strategies are being developed to suppress the accumulation of α1AT by transferring the normal gene into the liver.

Original languageEnglish
Pages (from-to)512-525
Number of pages14
JournalJournal of Inherited Metabolic Disease
Volume14
Issue number4
DOIs
Publication statusPublished - 1 Jul 1991
Externally publishedYes

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Deficiency Diseases
Liver Diseases
Secretory Proteinase Inhibitory Proteins
Liver
Emphysema
Liver Transplantation
Genes
Hepatocytes
Exons
Peptide Hydrolases
Mutation
Proteins
Therapeutics

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

α1-antitrypsin deficiency and liver disease. / Birrer, P.; McElvaney, N. G.; Chang-Stroman, L. M.; Crystal, Ronald.

In: Journal of Inherited Metabolic Disease, Vol. 14, No. 4, 01.07.1991, p. 512-525.

Research output: Contribution to journalArticle

Birrer, P. ; McElvaney, N. G. ; Chang-Stroman, L. M. ; Crystal, Ronald. / α1-antitrypsin deficiency and liver disease. In: Journal of Inherited Metabolic Disease. 1991 ; Vol. 14, No. 4. pp. 512-525.
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