Alpha-1 antitrypsin

Alpha-1 antitrypsin (A1AT) is a protein that is produced in the liver and released into the bloodstream. It helps to protect the lungs from damage caused by inflammation. A deficiency in this protein can lead to lung disease and liver disease.

Overview

Alpha-1 antitrypsin deficiency is a genetic disorder that can cause lung disease in adults and liver disease in both adults and children. This condition is caused by a mutation in the SERPINA1 gene, which provides instructions for producing the alpha-1 antitrypsin protein.

Function

The primary function of alpha-1 antitrypsin is to protect the lungs from neutrophil elastase, an enzyme that can digest connective tissue. It does this by binding to and neutralizing neutrophil elastase.

Deficiency

Alpha-1 antitrypsin deficiency occurs when the liver is unable to produce enough of the protein, or if the protein that is produced is abnormal and cannot be released into the bloodstream. This can lead to a buildup of abnormal alpha-1 antitrypsin protein in the liver, causing liver disease, and a lack of alpha-1 antitrypsin in the bloodstream, leading to lung disease.

Treatment

Treatment for alpha-1 antitrypsin deficiency can include medication, pulmonary rehabilitation, and, in severe cases, lung transplantation. In some cases, augmentation therapy may be used to increase the levels of alpha-1 antitrypsin in the blood.

See Also

• SERPINA1
• Neutrophil elastase
• Liver disease
• Lung disease

Alpha-1 antitrypsin Resources
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