α1-Antitrypsin deficiency and chronic respiratory disorders
نویسندگان
چکیده
منابع مشابه
α1-Antitrypsin deficiency: count me in please!
Respiratory medicine is facing formidable challenges in the 21st century. Indeed, most respiratory medical research is becoming interconnected, translational and transnational, all embedded within so-called “planetary health” [1]. However, renewing estimates and trends from classical, descriptive epidemiology, including how many patients of a given condition are around, and how many are expecte...
متن کاملCirculating polymers in α1-antitrypsin deficiency.
Most individuals carry two wild-type M alleles of the SERPINA1 gene which encodes a1-antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele (Glu342Lys; denoted PiZZ in the homozygote), and with the retention and polymerisation of a1-antitrypsin within hepatocytes [1]. These polymers are contained within periodic acid–Schiff-positive, diastase-resistant inclusion...
متن کاملMolecular Mechanism of Z α1-Antitrypsin Deficiency*
The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes. However, it remains unclear why the Z mutation causes intracellular polymerization of nascent Z α1-AT and why 15% of the expressed Z α1-AT is secreted in...
متن کاملAugmentation treatment for α1 antitrypsin deficiency.
www.thelancet.com Published online May 28, 2015 http://dx.doi.org/10.1016/S0140-6736(15)60036-8 1 α1 antitrypsin is a serine antiprotease secreted by the liver. Its main function is inhibition of neutrophil elastase, a non-specifi c protease released by activated or dying neutrophils. In individuals with healthy concentrations of α1 antitrypsin, the fragile alveolar structures of the lung paren...
متن کاملHepatic fibrosis and carcinogenesis in α1-antitrypsin deficiency: a prototype for chronic tissue damage in gain-of-function disorders.
In α1-antitrypsin (AT) deficiency, a point mutation renders a hepatic secretory glycoprotein prone to misfolding and polymerization. The mutant protein accumulates in the endoplasmic reticulum of liver cells and causes hepatic fibrosis and hepatocellular carcinoma by a gain-of-function mechanism. Genetic and/or environmental modifiers determine whether an affected homozygote is susceptible to h...
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ژورنال
عنوان ژورنال: European Respiratory Review
سال: 2020
ISSN: 0905-9180,1600-0617
DOI: 10.1183/16000617.0073-2019