Type

Other / n/a

Authors

Noel G McElvaney
Clifford C Taggart
Shane J O'Neill
Matthew W Lawless
Michael O'Mahony
Caitriona McLean
Tomás Carroll
Stanley DW Miller
Catherine M Greene

Subjects

Biochemistry

Topics
animals autophagy alpha 1 antitrypsin deficiency biological medicine and health sciences lung diseases alpha 1 antitrypsin liver diseases protein conformation humans models biological protein folding

Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations. (2008)

Abstract 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.
Collections Ireland -> Royal College of Surgeons in Ireland -> Medicine Articles
Ireland -> Royal College of Surgeons in Ireland -> Department of Medicine

Full list of authors on original publication

Noel G McElvaney, Clifford C Taggart, Shane J O'Neill, Matthew W Lawless, Michael O'Mahony, Caitriona McLean, Tomás Carroll, Stanley DW Miller, Catherine M Greene

Experts in our system

1
Noel G McElvaney
Royal College of Surgeons in Ireland
Total Publications: 194
 
2
Clifford C Taggart
Royal College of Surgeons in Ireland
Total Publications: 54
 
3
Shane J O'Neill
Royal College of Surgeons in Ireland
Total Publications: 84
 
4
Tomás P Carroll
Royal College of Surgeons in Ireland
Total Publications: 26
 
5
Catherine M Greene
Royal College of Surgeons in Ireland
Total Publications: 150