The alpha 1-antitrypsin gene and its deficiency states.

Publication Type	Review
Authors	Crystal R
Journal	Trends Genet
Volume	5
Issue	12
Pagination	411-7
Date Published	12/01/1989
ISSN	0168-9525
Keywords	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.
DOI	10.1016/0168-9525(89)90200-x
PubMed ID	2696185