Type

Journal Article

Authors

Noel G McElvaney
Kevin Molloy
Tidi Hassan
Catherine M Greene

Subjects

Microbiology

Topics
physiopathology serpina1 protein human enzymology animals lung alpha 1 antitrypsin deficiency etiology pulmonary disease stress physiological stress humans metabolism smoking lung diseases endoplasmic reticulum genetic predisposition to disease risk assessment genetics physiological heterozygote chronic obstructive mutation medicine and health sciences pulmonary disease chronic obstructive peptide hydrolases risk factors adverse effects phenotype alpha 1 antitrypsin

The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency. (2011)

Abstract The serine proteinase inhibitor α-1 anti-trypsin (AAT) provides an antiprotease protective screen throughout the body. Mutations in the AAT gene (SERPINA1) that lead to deficiency in AAT are associated with chronic obstructive pulmonary diseases. The Z mutation encodes a misfolded variant of AAT that is not secreted effectively and accumulates intracellularly in the endoplasmic reticulum of hepatocytes and other AAT-producing cells. Until recently, it was thought that loss of antiprotease function was the major cause of ZAAT-related lung disease. However, the contribution of gain-of-function effects is now being recognized. Here we describe how both loss- and gain-of-function effects can contribute to ZAAT-related lung disease. In addition, we explore how SERPINA1 heterozygosity could contribute to smoking-induced chronic obstructive pulmonary diseases and consider the consequences.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed
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, Kevin Molloy, Tidi Hassan, Catherine M Greene

Experts in our system

1
Noel G McElvaney
Royal College of Surgeons in Ireland
Total Publications: 194
 
2
Kevin Molloy
Royal College of Surgeons in Ireland
Total Publications: 19
 
3
Tidi Hassan
Royal College of Surgeons in Ireland
 
4
Catherine M Greene
Royal College of Surgeons in Ireland
Total Publications: 150