Alpha-1 antitrypsin (AAT) is a prominent serine protease inhibitor and an acute phase protein that plays a crucial role in the human body. It is primarily synthesized in the liver and functions to neutralize proteases, particularly neutrophil elastase, thereby protecting the lungs from damage. A deficiency in AAT can lead to several diseases, notably emphysema and liver cirrhosis, due to the accumulation of unneutralized proteases in the lungs and liver, respectively. Clinical manifestations of AAT deficiency often include symptoms such as chronic cough, shortness of breath, and liver enlargement. Diagnosis typically involves measuring plasma AAT levels, phenotyping, and genetic testing to identify specific mutations. Some patients with AAT deficiency may benefit from augmentation therapy, which involves the intravenous administration of AAT to increase its levels in the bloodstream and reduce the impact of protease activity. Recent research has highlighted AAT's broader immunomodulatory role, with studies focusing on its interactions with lipids and other proteins, mainly through electrostatic, glycan, or hydrophobic binding sites. AAT's potential therapeutic applications extend beyond the treatment of AAT deficiency, with research suggesting its use in managing disorders associated with chronic immune responses.
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