In alpha-1 antitrypsin deficiency, abnormal A1 aggregates accumulate in which cellular structure?

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Multiple Choice

In alpha-1 antitrypsin deficiency, abnormal A1 aggregates accumulate in which cellular structure?

In alpha-1 antitrypsin deficiency, the abnormal protein is produced by liver cells and misfolds due to the common Z variant. The misfolded A1AT is retained and forms aggregates in the hepatocytes’ rough endoplasmic reticulum. This retention in the hepatocellular ER leads to accumulation of the abnormal protein there, rather than in other organelles like the Golgi, nucleolus, or mitochondria. The Golgi would be involved if the protein were correctly folded and secreted, but the faulty folding traps the protein in the ER, causing ER stress and liver-related consequences.

In alpha-1 antitrypsin deficiency, the abnormal protein is produced by liver cells and misfolds due to the common Z variant. The misfolded A1AT is retained and forms aggregates in the hepatocytes’ rough endoplasmic reticulum. This retention in the hepatocellular ER leads to accumulation of the abnormal protein there, rather than in other organelles like the Golgi, nucleolus, or mitochondria. The Golgi would be involved if the protein were correctly folded and secreted, but the faulty folding traps the protein in the ER, causing ER stress and liver-related consequences.

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