Journal of Shanghai Jiaotong University(Medical Science) 2017;37(8):1179-1183

doi:10.3969/j.issn.1674-8115.2017.08.026

Research progress ofα1-antitrypsin deficiency of mutant Z

Zhuochao ZHOU ; Ying CHEN ; Shuyi ZHU ; Wenqi SHEN ; Aiwu ZHOU

Keywords

α1-antitrypsin; α1-antitrypsin deficiency; mutant Z; polymer; emphysema; neonatal hepatitis

Country

China

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.