Abstract
Alpha-1 antitrypsin (AAT) is a serum serine protease inhibitor that counteracts the effects of neutrophil-derived proinflammatory proteins. Several mutant AAT alleles result in AAT deficiency with either chronic obstructive lung disease, chronic liver disease, or both. PiZ is the most common mutant allele of AAT. A Gln to Lys change of the protein and impaired secretion from hepatocytes. The lack of secreted AAT leads to lung disease in a majority of patients, which is primarily due to the unopposed action of neutrophil products on the extracellular matrix in the lung. Meanwhile, the accumulation of Z mutant AAT in hepatocytes contributes to chronic liver disease in a smaller percentage of patients with this allele. Thus, replacement of the wild-type (M) AAT is the primary strategy to treat the lung disease, while down-regulation of mutant (Z) AAT would likely be needed to ameliorate the liver disease.
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