Research progress ofα1-antitrypsin deficiency of mutant Z

VernacularTitle:Z突变α1-抗胰蛋白酶缺乏症的研究进展
Author: Zhuochao ZHOU ; Ying CHEN ; Shuyi ZHU ; Wenqi SHEN ; Aiwu ZHOU
Keywords: α1-antitrypsin; α1-antitrypsin deficiency; mutant Z; polymer; emphysema; neonatal hepatitis
From: Journal of Shanghai Jiaotong University(Medical Science) 2017;37(8):1179-1183
CountryChina
Language:Chinese
Abstract: α1-Antitrypsin (α1-AT) belongs to serine protease inhibitor (Serpin) superfamily and is the main protease inhibitor in human circulation. It can inhibit many proteases to protect tissues from digradation. The mutant Z (Glu342Lys) of α1-AT predisposes to the early onset of emphysema due to decreased functional α1-AT in the lung and to neonatal hepatitis due to accumulation of α1-AT polymers in the endoplasmic reticulum of hepatocytes, which disrupts the balance between protease and protease inhibitors. This paper reviews recent research progress on the pathogenic mechanism and the prognosis of α1-antitrypsin deficiency.