Alpha-1 antitrypsin (A1AT) deficiency is one of the most common genetic disorders in the UK, affecting approximately one in 2,000 people. The A1AT protein is produced mainly in the liver and circulates to the lungs, where it serves a protective function against enzymes which can break down lung tissue.
In patients with A1AT deficiency, the protein cannot circulate freely and accumulates in the liver, leading to potentially life-threatening liver conditions including neonatal hepatitis, cirrhosis and hepatocellular carcinoma. Additionally, without A1AT circulating to the lungs, lung tissue can break down, predisposing patients to early onset emphysema. Currently, the only available treatments are liver transplantation for cirrhosis and protein replacement therapy for emphysema.
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Image: Confocal microscopy showing mutant A1AT as green inclusions within a cell
Credit: David Lomas
Reproduced courtesy of the University of Cambridge
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