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Related Experiment Video

Updated: May 15, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.

Darren N Saunders¹, Elizabeth A Tindall, Robert F Shearer

¹Cancer Research Program, Garvan Institute of Medical Research, Sydney, Australia. d.saunders@garvan.org.au

|December 20, 2012

Summary

A novel SERPINA1 gene mutation, T379Δ, causes alpha-1 Antitrypsin (α(1)AT) deficiency. This mutation leads to intracellular protein aggregation, impacting α(1)AT levels in an asymptomatic individual.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Genetics
Molecular Biology
Biochemistry

Background:

Alpha-1 Antitrypsin (α(1)AT) deficiency, caused by SERPINA1 gene mutations, is linked to pulmonary emphysema and liver disease.
Prevalence in European ancestry is 1 in 2500 in the USA.
α(1)AT deficiency is a significant health concern.

Purpose of the Study:

To discover and characterize a novel SERPINA1 mutation.
To investigate the functional consequences of this new mutation.
To understand the molecular basis of α(1)AT deficiency in an underrepresented population.

Main Methods:

Genetic sequencing to identify SERPINA1 mutations.
Functional assays to assess protein secretion and aggregation.
Analysis of protein structure and stability.

Main Results:

Discovery of a novel 49 base pair deletion mutation (T379Δ) in the SERPINA1 gene.
The T379Δ mutation causes a frameshift, altering the C-terminus of the α(1)AT protein.
Functional studies revealed the mutant protein is retained intracellularly and aggregates.

Conclusions:

The T379Δ mutation results in a non-secreted, aggregation-prone α(1)AT protein.
This finding expands the known spectrum of SERPINA1 mutations and their associated deficiencies.
Highlights the importance of genetic screening for α(1)AT deficiency in diverse populations.