Lieberman J
Pathol Biol (Paris). 1975 Sep;23(7):517-20.
Alpha1-antitrypsin deficiency is a genetic model that predisposes to pulmonary emphysema or a form of hepatic cirrhosis in man. The antitrypsin protein protects the tissues from proteolytic digestion by lysosomal proteases from inflammatory cells. The three causes of antitrypsin deficiency demonstrated to date are: 1) A defect in synthesis and release of the Z variant from the liver. 2) Presence of an inactive (null) gene for antitrypsin production, and 3) Increased lability of certain variants associated with the in vivo degradation of antitrypsin.
α1-抗胰蛋白酶缺乏症是一种遗传模型，易导致人类患肺气肿或某种形式的肝硬化。抗胰蛋白酶蛋白可保护组织免受炎症细胞溶酶体蛋白酶的蛋白水解消化。迄今为止已证实的抗胰蛋白酶缺乏症的三个原因是：1）肝脏中Z变体的合成和释放存在缺陷。2）存在抗胰蛋白酶产生的无活性（无效）基因，以及3）某些与抗胰蛋白酶体内降解相关的变体的不稳定性增加。
