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A Novel SERPINA1 Mutation Causing Serum Alpha(1)-Antitrypsin Deficiency

Abstract

Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor alpha(1)-Antitrypsin (alpha(1)AT). alpha(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(1)AT deficiency. This 49 base pair deletion mutation (T379Delta), originally mistyped by IEF, causes a frame-shift replacement of the last sixteen alpha(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.

Type Journal
ISBN 1932-6203 (Electronic) 1932-6203 (Linking)
Authors Saunders, D. N.; Tindall, E. A.; Shearer, R. F.; Roberson, J.; Decker, A.; Wilson, J. A.; Hayes, V. M.;
Responsible Garvan Author
Publisher Name PLoS One
Published Date 2012-12-20
Published Volume 7
Published Issue 12
Published Pages e51762
Status Published in-print
URL link to publisher's version http://www.ncbi.nlm.nih.gov/pubmed/23251618
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/11722