The α1-antitrypsin gene and its deficiency states

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129 Citations (Scopus)

Abstract

α1-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 exoms of the α1-antitrypsin gene result in ′α1-antitrypsin deficiency′, leading to emphysema at an early age. A subset of mutations cause liver disease and a rare mutations is associated with a bleeding diathesis. Preventive treatment for the emphysema associated with α1-antitrypsin deficiency is available in the form of intermittent infusions with α1-antitrypsin, and strategies have been developed to reverse the deficiency state with gene therapy.

Original languageEnglish
Pages (from-to)411-417
Number of pages7
JournalTrends in Genetics
Volume5
Issue numberC
DOIs
Publication statusPublished - 1 Jan 1989
Externally publishedYes

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Emphysema
Mutation
Genes
Leukocyte Elastase
Disease Susceptibility
Serine Proteases
Protease Inhibitors
Genetic Therapy
Respiratory System
Liver Diseases
Hemorrhage
Therapeutics

ASJC Scopus subject areas

  • Genetics

Cite this

The α1-antitrypsin gene and its deficiency states. / Crystal, Ronald.

In: Trends in Genetics, Vol. 5, No. C, 01.01.1989, p. 411-417.

Research output: Contribution to journalArticle

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