A Novel SERPINA1 Mutation Causing Serum Alpha.sub.1-Antitrypsin Deficiency

Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor [alpha].sub.1 -Antitrypsin ([alpha].sub.1 AT). [alpha].sub.1 AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 250...

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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:
Analysis
Genetic aspects
Protease inhibitors
Thrombin
Online Access:Get full text
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Summary:Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor [alpha].sub.1 -Antitrypsin ([alpha].sub.1 AT). [alpha].sub.1 AT 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 [alpha].sub.1 AT deficiency. This 49 base pair deletion mutation (T379[DELTA]), originally mistyped by IEF, causes a frame-shift replacement of the last sixteen [alpha].sub.1 AT 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