Title |
A Novel SERPINA1 Mutation Causing Serum Alpha1-Antitrypsin Deficiency
|
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Published in |
PLOS ONE, December 2012
|
DOI | 10.1371/journal.pone.0051762 |
Pubmed ID | |
Authors |
Darren N. Saunders, Elizabeth A. Tindall, Robert F. Shearer, Jacquelyn Roberson, Amy Decker, Jean Amos Wilson, Vanessa M. Hayes |
Abstract |
Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α(1)-Antitrypsin (α(1)AT). α(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 α(1)AT deficiency. This 49 base pair deletion mutation (T379Δ), originally mistyped by IEF, causes a frame-shift replacement of the last sixteen α(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. |
X Demographics
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Unknown | 2 | 100% |
Demographic breakdown
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Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
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Canada | 1 | 6% |
Unknown | 16 | 94% |
Demographic breakdown
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Researcher | 6 | 35% |
Student > Ph. D. Student | 5 | 29% |
Student > Bachelor | 3 | 18% |
Other | 2 | 12% |
Student > Master | 1 | 6% |
Other | 0 | 0% |
Readers by discipline | Count | As % |
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Chemical Engineering | 1 | 6% |
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Economics, Econometrics and Finance | 1 | 6% |
Other | 5 | 29% |
Unknown | 2 | 12% |