A Novel SERPINA1 Mutation Causing Serum Alpha1-Antitrypsin Deficiency

Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α1-Antitrypsin (α1AT). α1AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA. We present the discove...

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Bibliographic Details
Published in:PloS one 2012-12, Vol.7 (12), p.e51762
Main Authors: Saunders, Darren N., Tindall, Elizabeth A., Shearer, Robert F., Roberson, Jacquelyn, Decker, Amy, Wilson, Jean Amos, Hayes, Vanessa M.
Format: Article
Language:English
Subjects:
A1 gene
a1-antitrypsin
Biology
Cancer
Cloning
Deficiency diseases
Emphysema
Functional analysis
Gene deletion
Liver
Liver diseases
Lung diseases
Medical ethics
Medical research
Medicine
Microscopy
Mutation
Pathogenesis
Proteinase inhibitors
Proteins
Residues
Serine
Serine proteinase
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Summary:Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α1-Antitrypsin (α1AT). α1AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA. We present the discovery and characterization of a novel SERPINA1 mutant from an asymptomatic Middle Eastern male with circulating α1AT deficiency. This 49 base pair deletion mutation (T379Δ), originally mistyped by IEF, causes a frame-shift replacement of the last sixteen α1AT residues and adds an extra twenty-four residues. Functional analysis showed that the mutant protein is not secreted and prone to intracellular aggregation.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0051762