The ZZEGenotype and Lung Disease

The ZZEGenotype is the most common mutation in alpha-1. It also has the strongest association with liver disease, including M-melton. A disrupted amino acid substitution causes protein misfolding. That leads to polymerization of the misfolded proteins and an accumulation of this abnormal alpha-1 on the endoplasmic reticulum of the hepatocytes. And that ultimately leads to lung tissue breakdown in emphysema.