Deficiency of alpha-1 antitrypsin is associated with mutation in which gene?

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Multiple Choice

Deficiency of alpha-1 antitrypsin is associated with mutation in which gene?

Explanation:
Alpha-1 antitrypsin is a liver-produced serine protease inhibitor that protects lung tissue from neutrophil elastase. When the SERPINA1 gene is mutated, the produced alpha-1 antitrypsin is deficient or misfolded, leading to reduced inhibition of elastase and resultant lung tissue damage (often causing early emphysema) and sometimes liver disease due to protein accumulation. Thus the gene involved is SERPINA1. The other genes control unrelated processes: CFTR is linked to cystic fibrosis, HBB to hemoglobin disorders, and APOE to lipid transport and Alzheimer's risk.

Alpha-1 antitrypsin is a liver-produced serine protease inhibitor that protects lung tissue from neutrophil elastase. When the SERPINA1 gene is mutated, the produced alpha-1 antitrypsin is deficient or misfolded, leading to reduced inhibition of elastase and resultant lung tissue damage (often causing early emphysema) and sometimes liver disease due to protein accumulation. Thus the gene involved is SERPINA1. The other genes control unrelated processes: CFTR is linked to cystic fibrosis, HBB to hemoglobin disorders, and APOE to lipid transport and Alzheimer's risk.

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