Alpha-1-Antitrypsin Deficiency: An Ultrastructural Case Study

Abstract

Alpha-1-antitrypsin is a broad spectrum protease inhibitor produced by the liver. It accounts for 90% of the serum alpha-1 globulins. Normal serum levels of alpha-1-antitrypsin are 200-400 mg/100ml. The protease inhibitor serum level shows a distinct rise in response to tissue injury. Activity with chymotrypsin, elastase, hyaluronidase, skin collagenase, plasmin, and thrombin has been reported. It may have a role in providing protection to normal tissues by neutralizing enzymes released from dying cells as a result of injury or inflammation.Deficiency of alpha-1-antitrypsin is inherited as an autosomal recessive. Phenotype is determined by electrophoretic mobility in Starch-Gel electrophoresis. Normal individuals show M bands (for medium speed) and the homozygous dominant phenotype is designated PiMM. Two other electrophoretic migratory bands are observable in different phenotypes of this protease inhibitor: the S band (slower mobility than the M band) and the Z band (slowest).