scholarly journals Assessment of alpha-1-antitrypsin deficiency heterozygosity as a risk factor in the etiology of emphysema. Physiological comparison of adult normal and heterozygous protease inhibitor phenotype subjects from a random population.

1979 ◽  
Vol 63 (2) ◽  
pp. 299-309 ◽  
Author(s):  
D J McDonagh ◽  
S P Nathan ◽  
R J Knudson ◽  
M D Lebowitz
Keyword(s):  
Risk Factor ◽  
Protease Inhibitor ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Alpha-1-Antitrypsin Deficiency: An Ultrastructural Case Study

1976 ◽  
Vol 34 ◽  
pp. 230-231
Author(s):  
P. K. Simons
Keyword(s):  
Protease Inhibitor ◽  
Tissue Injury ◽  
Serum Levels ◽  
Normal Serum ◽  
Starch Gel Electrophoresis ◽  
Normal Tissues ◽  
Dominant Phenotype ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

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).

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