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Measuring and Interpreting Serum AAT Concentration.

Leslie J Donato¹, Melissa R Snyder², Dina N Greene³

¹Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First St. SW, Rochester, MN, 55905, USA. donato.leslie@mayo.edu.

Methods in Molecular Biology (Clifton, N.J.)

|July 29, 2017

Summary

This summary is machine-generated.

Alpha-1 antitrypsin (AAT) deficiency, caused by SERPINA1 gene mutations, leads to lung disease due to uninhibited neutrophil elastase. This chapter details clinical laboratory methods for measuring AAT concentration and identifying deficiency alleles.

Keywords:

Alpha-1 antitrypsin Mass spectrometry Nephelometry Turbidimetry

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Area of Science:

Clinical Chemistry
Genetics
Pulmonology

Background:

Alpha-1 antitrypsin (AAT) deficiency arises from SERPINA1 gene mutations, causing reduced circulating AAT levels.
Low AAT concentration permits unchecked neutrophil elastase activity, leading to lung tissue damage and disease.
Clinical assessment involves measuring serum AAT concentration and identifying deficiency alleles.

Purpose of the Study:

To describe clinical laboratory methods for quantifying AAT concentration.
To discuss quality control, assay parameters, and result interpretation for AAT deficiency testing.
To introduce emerging mass spectrometry techniques for simultaneous AAT quantitation and allele identification.

Main Methods:

Nephelometry and turbidimetry, immunometric techniques based on light scatter, are the most common AAT quantification methods.
These methods involve reacting patient AAT with anti-AAT antibodies to form polymers, measured by light scatter.
Emerging mass spectrometry techniques offer simultaneous AAT quantitation and allele identification.

Main Results:

Standard immunometric methods provide reliable AAT quantification.
Mass spectrometry presents a promising alternative for combined AAT quantitation and genetic analysis.
Accurate interpretation requires considering AAT genetic phenotypes and patient inflammatory status.

Conclusions:

Accurate AAT measurement is crucial for diagnosing AAT deficiency and preventing lung disease.
Immunometric assays are standard, but mass spectrometry offers advanced capabilities.
Understanding genetic phenotypes and inflammatory states is vital for interpreting AAT test results.