Abstract
α1-antitrypsin deficiency is a genetic disorder which contributes to the development of chronic obstructive pulmonary disease, bronchiectasis, liver cirrhosis and panniculitis. The discovery of α1-antitrypsin and its function as an antiprotease led to the protease-antiprotease hypothesis, which goes some way to explaining the pathogenesis of emphysema. This article will review the clinical features of α1-antitrypsin deficiency, the genetic mutations known to cause it, and how they do so at a molecular level. Specific treatments for the disorder based on this knowledge will be reviewed, including α1-antitrypsin replacement, gene therapy and possible future therapies, such as those based on stem cells.
Original language | English |
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Pages (from-to) | 481-492 |
Number of pages | 12 |
Journal | Respiration |
Volume | 74 |
Issue number | 5 |
DOIs | |
Publication status | Published - 1 Aug 2007 |
Keywords
- biological therapy
- epidemiology, molecular
- genetics, population
- molecular biology
- alpha 1-antitrypsin deficiency