Document Detail

Alpha one antitrypsin deficiency: from gene to treatment.
MedLine Citation:
PMID:  17671403     Owner:  NLM     Status:  MEDLINE    
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.
Alice M Wood; Robert A Stockley
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Respiration; international review of thoracic diseases     Volume:  74     ISSN:  0025-7931     ISO Abbreviation:  Respiration     Publication Date:  2007  
Date Detail:
Created Date:  2007-08-02     Completed Date:  2007-10-23     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0137356     Medline TA:  Respiration     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  481-92     Citation Subset:  IM    
Copyright Information:
Copyright 2007 S. Karger AG, Basel.
Department of Medical Sciences, University of Birmingham, Birmingham, UK.
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MeSH Terms
Forced Expiratory Volume
Gene Therapy
Genetic Variation
Polymorphism, Single Nucleotide
Pulmonary Disease, Chronic Obstructive / genetics,  physiopathology
Pulmonary Emphysema / genetics
Respiratory Function Tests
alpha 1-Antitrypsin Deficiency / complications,  diagnosis,  genetics*,  therapy*

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