The alpha 1-antitrypsin gene and its deficiency states. Review uri icon

Overview

MeSH

  • Alleles
  • Biological Evolution
  • Emphysema
  • Genetic Therapy
  • Hemorrhagic Disorders
  • Humans
  • Liver Diseases
  • alpha 1-Antitrypsin Deficiency

MeSH Major

  • Genes
  • Mutation
  • alpha 1-Antitrypsin

abstract

  • alpha 1-antitrypsin, a 52 kDa antiprotease, provides the major defense to the lower respiratory tract against the ravages of neutrophil elastase, a powerful serine protease. A variety of mutations in the coding exons of the alpha 1-antitrypsin gene result in 'alpha 1-antitrypsin deficiency', leading to emphysema at an early age. A subset of mutations cause liver disease and a rare mutation is associated with a bleeding diathesis. Preventive treatment for the emphysema associated with alpha 1-antitrypsin deficiency is available in the form of intermittent infusions with alpha 1-antitrypsin, and strategies have been developed to reverse the deficiency state with gene therapy.

publication date

  • December 1989

has subject area

  • Alleles
  • Biological Evolution
  • Emphysema
  • Genes
  • Genetic Therapy
  • Hemorrhagic Disorders
  • Humans
  • Liver Diseases
  • Mutation
  • alpha 1-Antitrypsin
  • alpha 1-Antitrypsin Deficiency

Research

keywords

  • Journal Article
  • Review

Identity

Language

  • eng

PubMed ID

  • 2696185

Additional Document Info

start page

  • 411

end page

  • 417

volume

  • 5

number

  • 12