Z-α<sub>1</sub>-antitrypsin polymers impose molecular filtration in the endoplasmic reticulum after undergoing phase transition to a solid state.

Chambers, Joseph E; Zubkov, Nikita; Kubánková, Markéta; Nixon-Abell, Jonathon; Mela, Ioanna; Abreu, Susana; Schwiening, Max; Lavarda, Giulia et al. · Sci Adv · 2022

basic_science · Level V

Where this comes from

Abstract

Misfolding of secretory proteins in the endoplasmic reticulum (ER) features in many human diseases. In α<sub>1</sub>-antitrypsin deficiency, the pathogenic Z variant aberrantly assembles into polymers in the hepatocyte ER, leading to cirrhosis. We show that α<sub>1</sub>-antitrypsin polymers undergo a liquid:solid phase transition, forming a protein matrix that retards mobility of ER proteins by size-dependent molecular filtration. The Z-α<sub>1</sub>-antitrypsin phase transition is promoted during ER stress by an ATF6-mediated unfolded protein response. Furthermore, the ER chaperone calreticulin promotes Z-α<sub>1</sub>-antitrypsin solidification and increases protein matrix stiffness. Single-particle tracking reveals that solidification initiates in cells with normal ER morphology, previously assumed to represent a healthy pool. We show that Z-α<sub>1</sub>-antitrypsin-induced hypersensitivity to ER stress can be explained by immobilization of ER chaperones within the polymer matrix. This previously unidentified mechanism of ER dysfunction provides a template for understanding a diverse group of related proteinopathies and identifies ER chaperones as potential therapeutic targets.