Alpha one antitrypsin deficiency: From gene to treatment
Research output: Contribution to journal › Review article › peer-review
Colleges, School and Institutes
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.
|Number of pages||12|
|Publication status||Published - 1 Aug 2007|
- biological therapy, epidemiology, molecular, genetics, population, molecular biology, alpha 1-antitrypsin deficiency