Figures & data
Figure 1 Isoelectric focusing gel illustrating AAT phenotype mutations. The glycan numbers for the phenotypes are labeled.
Abbreviation: AAT, alpha-1 antitrypsin.
Figure 2 A computed tomography scan showing severe bilateral, lower lobe-predominant panacinar emphysema in a patient with AATD homozygous for the Z mutation.
Abbreviation: AATD, alpha-1 antitrypsin deficiency.
Figure 3 Protease/antiprotease balance shown in the lung of a healthy individual and a person with AATD. In a normal individual, the lung parenchyma is protected from serine protease activity of NE, CathG and PR3 by AAT. In an AATD individual, unchecked levels of proteases damage lung tissue due to low levels of AAT.
Abbreviations: AAT, alpha-1 antitrypsin; AATD, AAT deficiency; CathG, cathepsin G; NE, neutrophil elastase; PR3, proteinase 3.
Figure 4 Overview of inflammation caused in AATD liver and lung disease. AAT Z-polymers misfold in the liver leading to retention/aggregation in the ER, resulting in low levels of plasma AAT. Low levels of AAT and active uninhibited serine proteases can cause damage to lung parenchyma ultimately leading to emphysema and COPD.
Abbreviations: AAT, alpha-1 antitrypsin; AATD, AAT deficiency; ER, endoplasmic reticulum.
