Alpha 1-antitrypsin

Alpha 1-antitrypsin (A1AT) is a protein in the serpin superfamily that inhibits serine proteases. It is encoded in humans by the SERPINA1 gene. A1AT is secreted in the bloodstream by the liver. Its primary function is to protect the lungs from neutrophil elastase, an enzyme that can degrade connective tissue.

Function[edit | edit source]

Alpha 1-antitrypsin is a protease inhibitor, meaning it targets and inhibits certain protease enzymes. Its primary target is neutrophil elastase, an enzyme released by white blood cells to combat infections. However, if left unchecked, neutrophil elastase can also attack healthy tissue, particularly the delicate alveoli in the lungs. By inhibiting this enzyme, A1AT protects the lungs from damage.

Clinical significance[edit | edit source]

Deficiency in alpha 1-antitrypsin can lead to alpha 1-antitrypsin deficiency (A1AD), a genetic disorder that can cause lung diseases such as emphysema and chronic obstructive pulmonary disease (COPD). It can also cause liver diseases such as cirrhosis and hepatitis. A1AD is typically diagnosed through genetic testing.

Treatment[edit | edit source]

There is currently no cure for A1AD, but treatments are available to manage symptoms and slow the progression of the disease. These include bronchodilators, corticosteroids, and oxygen therapy. In severe cases, lung transplantation may be considered.

Research[edit | edit source]

Research into alpha 1-antitrypsin is ongoing. Current areas of study include the development of new treatments for A1AD, as well as the potential use of A1AT as a therapeutic agent in other diseases, such as cystic fibrosis and rheumatoid arthritis.