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Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations.
Greene, Catherine M; Miller, Stanley DW; Carroll, Tomás; McLean, Caitriona; O'Mahony, Michael; Lawless, Matthew W; O'Neill, Shane J; Taggart, Clifford C; McElvaney, Noel G
<p>The original publication is available at www.springerlink.com</p> <p>Alpha-1 antitrypsin (A1AT) is a serine anti-protease produced chiefly by the liver. A1AT deficiency is a genetic disorder characterized by serum levels of less than 11 mumol/L and is associated with liver and lung manifestations. The liver disease, which occurs in up to 15% of A1AT-deficient individuals, is a result of toxic gain-of-function mutations in the A1AT gene, which cause the A1AT protein to fold aberrantly and accumulate in the endoplasmic reticulum of hepatocytes. The lung disease is associated with loss-of-function, specifically decreased anti-protease protection on the airway epithelial surface. The so-called 'Z' mutation in A1AT deficiency encodes a glutamic acid-to-lysine substitution at position 342 in A1AT and is the most common A1AT allele associated with disease. Here we review the current understanding of the molecular pathogenesis of A1AT deficiency and the best clinical management protocols.</p>
Keyword(s): Animals; Autophagy; Humans; Liver Diseases; Lung Diseases; Models; Biological; Protein Conformation; Protein Folding; alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; Medicine and Health Sciences
Publication Date:
2008
Type: Journal article
Peer-Reviewed: Yes
Institution: Royal College of Surgeons in Ireland
Citation(s): Greene CM, Miller SDW, Carroll T, McLean C, O'Mahony M, Lawless MW, O'Neill SJ, Taggart CC, McElvaney NG. Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations. Journal of Inherited Metababolic Disorders 2008;31(1):21-34.
File Format(s): application/pdf
Related Link(s): http://epubs.rcsi.ie/medart/7/
First Indexed: 2015-07-31 15:36:19 Last Updated: 2018-02-13 07:20:17