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 |