Thematic Review Series 2007

Alpha One Antitrypsin Deficiency: From Gene to Treatment
Alice M. Wood^a, Robert A. Stockley<sup>b

a</sup>Department of Medical Sciences, University of Birmingham and
^bLung Investigation Unit, University Hospitals Birmingham, Birmingham, UK

Address of Corresponding Author

Respiration 2007;74:481-492 (DOI: 10.1159/000105536)

  Key Words

• 1-antitrypsin deficiency
• Molecular biology
• Genetics, population
• Epidemiology, molecular
• Biological therapy

  Abstract

1-antitrypsin deficiency is a genetic disorder which contributes to the development of chronic obstructive pulmonary disease, bronchiectasis, liver cirrhosis and panniculitis. The discovery of 1-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 1-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 1-antitrypsin replacement, gene therapy and possible future therapies, such as those based on stem cells.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Prof. R.A. Stockley
Lung Investigation Unit, University Hospitals Birmingham
Birmingham B15 2TH (UK)
Tel. +44 121 697 8257, Fax +44 121 697 8256, E-Mail rob.stockley@uhb.nhs.uk

  Article Information

Previous articles in this series: 1. Contopoulos-Ioannidis DG, Kouri IN, Ioannidis JPA: Genetic predisposition to asthma and atopy. Respiration 2007;74:8-12. 2. Sztrymf B, Yaïci A, Girerd B, Humbert M: Genes and pulmonary arterial hypertension. Respiration 2007;74:123-132. 3. Southern KW: Cystic fibrosis and formes frustes of CFTR-related disease. Respiration 2007;74:241-251. 4. Morillas HN, Zariwala M, Knowles MR: Genetic causes of bronchiectasis: primary ciliary dyskinesia. Respiration 2007;74:252-263. 5. Notarangelo LD, Plebani A, Mazzolari E, Soresina A, Bondioni MP: Genetic causes of bronchiectasis: primary immune deficiencies and the lung. Respiration 2007;74:264-275. 6. Cottin V, Dupuis-Girod S, Lesca G, Cordier J-F: Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler disease). Respiration 2007;74:361-378.

Number of Print Pages : 12
Number of Figures : 3, Number of Tables : 2, Number of References : 131