Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency

Caitriona McLean (7950845)
Catherine Greene (7895252)
Noel G McElvaney (7895978)

Publication date

January 2009

Abstract

Alpha-1 antitrypsin (A1AT) is a 52 kDa serine protease inhibitor that is synthesized in and secreted from the liver. Although it is present in all tissues in the body the present consensus is that its main role is to inhibit neutrophil elastase in the lung. A1AT deficiency occurs due to mutations of the A1AT gene that reduce serum A1AT levels to <35% of normal. The most clinically significant form of A1AT deficiency is caused by the Z mutation (Glu342Lys). ZA1AT polymerizes in the endoplasmic reticulum of liver cells and the resulting accumulation of the mutant protein can lead to liver disease, while the reduction in circulating A1AT can result in lung disease including early onset emphysema. There is currently no available treatment for t...

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Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency

Abstract

Extracted data

Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency

Abstract

Extracted data

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