Alpha1-antitrypsin deficiency, an inherited disorder affecting 100,000 people in the U.S., causes a progressive and incurable lung disease. A subset of patients with the condition—about 10% to 15%—also develop liver disease because of the accumulation of the aggregated protein variant resulting from the genetic error that causes the disease. Now, researchers at Washington University School of Medicine in St. Louis have identified a previously unknown biological process that helps explain why only a subset of the affected population develop liver disease.
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