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Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. [1] Onset of lung problems is typically between 20 and 50 years of age. [ 1 ] This may result in shortness of breath , wheezing , or an increased risk of lung infections .
Alpha-1 antitrypsin or α 1-antitrypsin (A1AT, α 1 AT, A1A, or AAT) is a protein belonging to the serpin superfamily. It is encoded in humans by the SERPINA1 gene . A protease inhibitor , it is also known as alpha 1 –proteinase inhibitor ( A1PI ) or alpha 1 -antiproteinase ( A1AP ) because it inhibits various proteases (not just trypsin ). [ 5 ]
Alpha-1 antitrypsin deficiency is a genetic risk factor that may lead to the condition presenting earlier. [9] When associated with significant airflow limitation, emphysema is a major subtype of chronic obstructive pulmonary disease (COPD), a progressive lung disease characterized by long-term breathing problems and poor airflow.
Deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [7] Alpha 1-antichymotrypsin is also associated with the pathogenesis of Alzheimer's disease as it enhances the formation of amyloid-fibrils in this disease. [6]
Elastase is inhibited by the acute-phase protein α 1-antitrypsin (A1AT), which binds almost irreversibly to the active site of elastase and trypsin. A1AT is normally secreted by the liver cells into the serum. Alpha-1 antitrypsin deficiency (A1AD) leads to uninhibited destruction of elastic fibre by elastase; the main result is emphysema.
In medicine, protease inhibitor is often used interchangeably with alpha 1-antitrypsin (A1AT, which is abbreviated PI for this reason). [3] A1AT is indeed the protease inhibitor most often involved in disease, namely in alpha-1 antitrypsin deficiency.
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The alpha-1 fraction does not disappear in alpha 1-antitrypsin deficiency, however, because other proteins, including alpha-lipoprotein and orosomucoid, also migrate there. As a positive acute phase reactant, AAT is increased in acute inflammation. [citation needed] Bence Jones protein may bind to and retard the alpha-1 band. [citation needed]