Lomas D A, Parfrey H
Respiratory Medicine Unit, Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Cambridge CB2 2XY, UK.
Thorax. 2004 Jun;59(6):529-35. doi: 10.1136/thx.2003.006528.
The molecular basis of alpha(1)-antitrypsin deficiency is reviewed and is shown to be due to the accumulation of mutant protein as ordered polymers within the endoplasmic reticulum of hepatocytes. The current goals are to determine the cellular response to polymeric alpha(1)-antitrypsin and to develop therapeutic strategies to block polymerisation in vivo.
本文综述了α1-抗胰蛋白酶缺乏症的分子基础,发现其是由于突变蛋白在内质网中以有序聚合物的形式在肝细胞内蓄积所致。当前的目标是确定细胞对聚合α1-抗胰蛋白酶的反应,并开发体内阻断聚合反应的治疗策略。