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A1AT's True Target
- Alpha-1 antitrypsin (A1AT) is a protease inhibitor targeting multiple enzymes, not just trypsin.
- Its name is antiquated, initially targeting trypsin, but its key role in the lungs is inhibiting neutrophil elastase.
A1AT Deficiency and Genotypes
- Alpha-1 antitrypsin deficiency involves reduced or dysfunctional A1AT production due to mutated alleles.
- The most common mutation is ZZ, but others exist with interesting names based on discovery locations.
Toxic Loss vs. Gain of Function
- A1AT deficiency's impact on the lungs (emphysema) is a toxic loss of function: loss of A1AT leads to excess elastase.
- However, liver disease from A1AT deficiency stems from a different mechanism.