Alpha-1 antitrypsin deficiency

An inherited disorder in which low or dysfunctional alpha-1 antitrypsin can damage the lungs and cause abnormal protein buildup in the liver.

SERPINA1: The gene that encodes alpha-1 antitrypsin, a protease inhibitor produced mainly by liver cells. Variants in this gene cause deficient or misfolded alpha-1 antitrypsin.
Alpha-1 antitrypsin: A serine protease inhibitor made chiefly by the liver that limits tissue damage from enzymes such as neutrophil elastase. Its quantity and function determine much of the disorder’s lung protection.
Alpha-1 antitrypsin blood test: A laboratory measurement of alpha-1 antitrypsin concentration in blood. Low concentrations can support diagnosis, though inflammation may raise the measured level.
Chronic obstructive pulmonary disease: A group of lung diseases causing persistent airflow limitation, including emphysema and chronic bronchitis. Alpha-1 antitrypsin deficiency is an inherited cause of obstructive lung disease.
Gene therapy: Treatment that modifies or introduces genetic material to address disease. Researchers are investigating ways to restore alpha-1 antitrypsin production.
Neutrophil elastase: A protease released by neutrophils that breaks down elastin and other tissue proteins. Unopposed activity can erode lung tissue when alpha-1 antitrypsin is scarce.
Codominance: An inheritance pattern in which both alleles contribute detectably to an individual’s phenotype. SERPINA1 alleles can both influence alpha-1 antitrypsin levels.
SERPINA1 genotyping: A genetic test that identifies selected variants in the SERPINA1 gene. Genotyping can clarify inherited risk when protein testing is inconclusive.
Cystic fibrosis: An inherited disorder caused by CFTR dysfunction that leads to thick secretions and multisystem disease. It can cause lung disease through a different gene and mechanism.
RNA interference: A cellular process in which small RNA molecules reduce expression of target genes. Experimental approaches aim to lower production of liver-retained mutant protein.

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