on
Mon, Dec 16, 2024
DefiniGEN human iPSC-derived Alpha-1 Antitrypsin Deficiency disease modelled hepatocytes.
Alpha-1-antitrypsin deficiency (A1ATD) is a disease which manifests in the liver as a result of an inherited mutation in the SERPINA1 gene (E342K ZZ being the most prevalent) and results in the misfolding of the A1AT protein, forming aggregates in the endoplasmic reticulum of the hepatocytes thereby causing liver damage. In addition, the lack of active A1AT protein in the bloodstream causes a failure to inhibit neutrophil elastase in the lungs, leading to chronic and life-threatening lung damage.
