A study of human alpha-1-antitrypsin deficiency

Abstract

Alpha-1-Antitrypsin (A-1-AT) is a member of the very large of serum proteins. Its name suggests its function to some extent, It moves in the alpha-1 region in zone electrophoresis at a pH of 8.6, this being the zone immediate following the major zone containing albumin (Plate 1-1). The name would suggest that it is a protein which acts against, or inhibits, the proteolytic enzyme, trypsin. However, its spectrum of protease inhibition is far wider than this and involves enzymes such as thrombin, plasmin, elastase, collagenase, chymotrypsin, and proteolytic enzymes from polymorphonuclear leukocytes. In other words, it is a broad spectrum anti-protease.

A-1-AT is normally present in human serum at a concentration of about 212 mg/100 ml of serum. However, persons have been found in which the concentration of A-1-AT is only about 10% the normal level. Other persons have been found who have an intermediate level of about 60% the normal level. These deficient persons can be detected by electrophoresis in media such as paper, agarose or cellulose.