Alpha-1-Antitrypsin

Alpha-1-Antitrypsin (A1AT) is a protein in the serpin superfamily that is encoded in humans by the SERPINA1 gene. It is a type of serine protease inhibitor (serpin) that protects the lungs from the destructive actions of neutrophil elastase, an enzyme released from white blood cells to combat infection.

Function

A1AT is produced in the liver and secreted into the bloodstream to reach the lungs. Here, it binds to and inhibits neutrophil elastase, preventing it from breaking down elastin, a key component of lung tissue. This protective mechanism is crucial in maintaining the elasticity and structure of the lungs.

Deficiency

Alpha-1-Antitrypsin deficiency is a genetic disorder characterized by low levels or absence of A1AT, leading to uncontrolled activity of neutrophil elastase in the lungs. This results in the degradation of lung tissue, leading to conditions such as emphysema and chronic obstructive pulmonary disease (COPD).

Diagnosis

Diagnosis of A1AT deficiency involves blood tests to measure the level of A1AT in the blood, genetic testing to identify mutations in the SERPINA1 gene, and lung function tests to assess the extent of lung damage.

Treatment

Treatment for A1AT deficiency is primarily focused on managing symptoms and preventing complications. This may include bronchodilators, inhaled steroids, and oxygen therapy. In severe cases, lung transplantation may be considered.

Research

Research into A1AT deficiency is ongoing, with current studies focusing on the development of new treatments, including gene therapy and stem cell therapy.

See also

• Protease inhibitor (biology)
• Serpinopathy
• Zemaira