Perspectives Page 1 Perspectives al -Antitrypsin Deficiency, Emphysema, and Liver Disease
Genetic Basis and Strategies for Therapy Ronald G. Crystal Pulmonary Branch, National Heart,
Lung and Blood Institute, Bethesda, Maryland 20892 a 1 -Antitrypsin (a lAT)' deficiency, one of
the most common lethal hereditary disorders of Caucasians of European descent, is an
autosomal recessive disorder characterized by reduced serum levels of alAT, a 52-kD
glycoprotein that functions as an antiprotease (1, 2). The deficiency state is caused by mutations …