Alpha 1 antitrypsin M1: a new common genetically determined variant

Area of Science:

• Biochemistry
• Human Genetics

Background:

• Alpha 1 antitrypsin (AAT) is a crucial serum protein.
• Genetic variations in AAT can impact health and disease susceptibility.

Purpose of the Study:

• To report the discovery of a new common variant of alpha 1 antitrypsin, designated M1.
• To characterize the detection method and prevalence of the M1 variant.

Main Methods:

• Serum protein analysis using isoelectric focusing (IEF) in a pH gradient (3.5-5.0) on polyacrylamide gels.
• Comparison with the common alpha 1 antitrypsin M type.
• Evaluation of detection limits and cross-reactivity with starch gel electrophoresis.

Main Results:

• A new common variant, alpha 1 antitrypsin M1, was identified.
• The M1 variant is distinguishable from the M type only when both are present in the same serum sample.
• The M1 variant is not detectable by starch gel electrophoresis.
• The gene frequency of the M1 variant in a sample of United States whites was found to be 0.09 (9%).

Conclusions:

• Isoelectric focusing is effective for identifying the novel alpha 1 antitrypsin M1 variant.
• The M1 variant represents a common genetic polymorphism in populations of European descent.
• Further research may be needed to understand the clinical significance of the AAT M1 variant.