What is alpha-1 antitrypsin deficiency (Alpha-1)?
Alpha-1 antitrypsin deficiency (also referred to as Alpha-1) is caused by mutations in the SERPINA1 gene on chromosome 14. This gene codes for an enzyme called alpha-1 antitrypsin. It is produced in the liver and released into the blood, ultimately to protect the lungs from attack by an enzyme called neutrophil elastase. Neutrophil elastase is produced by white blood cells in response to infection or irritants to digest damaged tissue in the lungs. When SERPINA1 is mutated the abnormal alpha-1 antitrypsin protein gets stuck in the liver and is unable to pass into the bloodstream. Without protection from this protein, the lungs are left vulnerable to attack by neutrophil elastase. The accumulation of alpha-1 antitrypsin can also damage the liver.
