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Updated: Jul 1, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Serpin polymerization and its role in disease--the molecular basis of alpha1-antitrypsin deficiency
Anja S Knaupp1, Stephen P Bottomley
1Department of Biochemistry and Molecular Biology, Monash University, Melbourne, Victoria, Australia.
Abstract:
Protein aggregation is the cause of several human diseases. Understanding the molecular mechanisms involved in protein aggregation requires knowledge of the kinetics and structures populated during the reaction. Arguably, the best structurally characterized misfolding reaction is that of alpha(1)-antitrypsin. Alpha(1)-antitrypsin misfolding leads to both liver disease and emphysema and affect approximately 1 in 2000 of the population. This review will focus on the mechanism of alpha(1)-antitrypsin misfolding and the development of potential therapeutic strategies.
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