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Book

Alpha-1 Antitrypsin Mutation(Archived)

Ali Abdulkarim  1 , Timothy J. Craig  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Alpha-1 Antitrypsin Mutation(Archived)

Ali Abdulkarim et al.
Free Books & Documents

Excerpt

Alpha-1 antitrypsin is a protease inhibitor (PI) produced primarily in the liver. It inhibits the neutrophil elastase activity in the lung and protects it from proteolytic damage. It is responsible for approximately 90% of the protection against elastolytic activity in the lower airways caused by elastase released from neutrophils. If the neutrophils' elastases are not opposed, panacinar lung tissue is damaged, increasing the risk of developing chronic obstructive pulmonary disease (COPD). On the other hand, the retention and accumulation of mutated polymers in the endoplasmic reticulum of hepatocytes renders individuals with this disease at risk of "a gain of toxic function," leading to liver disease.

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Conflict of interest statement

Disclosure: Ali Abdulkarim declares no relevant financial relationships with ineligible companies.

Disclosure: Timothy Craig declares no relevant financial relationships with ineligible companies.

References

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