The study, published in the journal PLOS One, has investigated the molecule in the body that causes the inherited disease. The new finding could help scientists develop new drugs for the condition and better tools to diagnose the disease.
In healthy people, Alpha-1 Antitrypsin is a molecule made in the liver then passed into the blood. Its purpose is to prevent the breakdown of tissue in the lungs.
For people with the disease, changes occur in the molecule meaning that it isn’t passed into the blood. Instead, it stays in the liver, and so the tissue in the lungs breaks down.
The research has identified new changes in the molecule which could trigger the disease. The changes are in a different area to those previously found and could help scientists understand more about the development of the disease. However, further investigation is now needed to understand how they contribute to the development of the disease.
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