alexa Alpha one antitrypsin deficiency: from gene to treatment.
Genetics & Molecular Biology

Genetics & Molecular Biology

Gene Technology

Author(s): Wood AM, Stockley RA

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Abstract Alpha1-antitrypsin deficiency is a genetic disorder which contributes to the development of chronic obstructive pulmonary disease, bronchiectasis, liver cirrhosis and panniculitis. The discovery of alpha1-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 alpha1-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 alpha1-antitrypsin replacement, gene therapy and possible future therapies, such as those based on stem cells. Copyright 2007 S. Karger AG, Basel. This article was published in Respiration and referenced in Gene Technology

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