Antitrypsin (AAT) Deficiency‐α1

Diane W Cox, University of Alberta, Alberta, Canada

Published online: January 2006

DOI: 10.1038/npg.els.0006101

Alpha-1-antitrypsin deficiency is one of the more common metabolic disorders, and is usually associated with one common gene mutation. The deficiency results in increased susceptibility to chronic obstructive pulmonary disease and liver disease, both in childhood and adult life.

Keywords: serine proteinase inhibitor; serpin; emphysema; liver disease, PI types, lung

 References
    Alpha1-Antitrypsin Deficiency Registry Study Group (1998) Survival and FEV1 decline in individuals with severe deficiency of 1-antitrypsin. American Journal of Respiratory and Critical Care Medicine 158: 49–59.
    Carrell RW, Pemberton PA and Boswell DR (1987) The serpins: evolution and adaptation in a family of protease inhibitors. Cold Spring Harbor Symposia on Quantitative Biology 52: 527–535.
    Cox DW and Billingsley GD (1989) Rare deficiency types of 1-antitrypsin: electrophoretic variation and DNA haplotypes. American Journal of Human Genetics 44: 844–854.
    Cox DW and Smyth S (1983) Risk for liver disease in adults with 1-antitrypsin deficiency. American Journal of Medicine 74: 221–227.
    Cox DW, Woo SLC and Mansfield T (1985) DNA restriction fragments associated with 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature 316: 79–81.
    Eriksson S, Lindell SE and Wiberg R (1985) Effects of smoking and intermediate 1-antitrypsin deficiency (PI MZ) on lung function. European Journal of Respiratory Disease 67: 279–285.
    Larsson C (1978) Natural history and life expectancy in severe alpha1-antitrypsin deficiency, PI Z. Acta Medica Scandinavica 204: 345–351.
    Laurell C-B and Eriksson S (1963) The electrophoretic 1-globulin pattern of serum in 1-antitrypsin deficiency. Scandinavian Journal of Clinical and Laboratory Investigation 15: 132–140.
    Thelin T, Sveger T and McNeil TF (1996) Primary prevention in a high-risk group: smoking habits in adolescents with homozygous alpha-1-antitrypsin deficiency (ATD). Acta Paediatrica 85: 1207–1212.
    Wencker M, Banik N, Buhl R, Seidel R and Konietzko N (1998) Long-term treatment of 1-antitrypsin deficiency-related pulmonary emphysema with human 1-antitrypsin. Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL)-1-AT-study group. European Respiratory Journal 11: 428–433.
 Further Reading
    book Cox DW (2001) "1-Antitrypsin deficiency". In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds.) The Molecular and Metabolic Bases of Inherited Disease, 8th edn, pp. 5559–5586. New York, NY: McGraw-Hill.
    Faber J-P, Poller W, Weidinger S, et al. (1994) Identification and DNA sequence analysis of 15 new 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. American Journal of Human Genetics 55: 1113–1121.
    Lomas DA, Evans DL, Finch JT and Carrell RW (1992) The mechanism of Z 1-antitrypsin accumulation in the liver. Nature 357: 605–607.
    Perlmutter DH (1996) Alpha-1-antitrypsin deficiency: biochemistry and clinical manifestations. Annals of Medicine 28: 385–394.
    Pierce JA (1997) 1-Antitrypsin augmentation therapy [editorial comment]. Chest 112: 872–874.
    Rollini P and Fournier RE (1997) A 370-kb cosmid contig of the serpin gene cluster on human chromosome 14q32.1: molecular linkage of the genes encoding alpha 1-antichymotrypsin, protein C inhibitor, kallistatin, alpha 1-antitrypsin, and corticosteroid-binding globulin. Genomics 46: 409–415.
    Sveger T (1988) The natural history of liver disease in 1-antitrypsin deficient children. Acta Paediatrica Scandinavica 77: 847–851.
    Sveger T and Thelin T (2000) A future for neonatal alpha l-antitrypsin screening? Acta Paediatrica 89: 628–631.
 Web Links
    ePath Serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1); Locus ID: 5265. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5265
    ePath Serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1); MIM number: 107400. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?107400

Related Sub-Topics:

Protein Structure | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease | Proteins: Structure, Function, Metabolism | Enzymes: Structure and Action Mechanism
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Article Title: Antitrypsin (AAT) Deficiency‐α1
 
How to Cite close
Cox, Diane W(Jan 2006) Antitrypsin (AAT) Deficiency‐α1. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006101]