Alpha-1 antitrypsin deficiency is a cause of liver disease in neonates and emphysema in adults. Protein phenotypes are identified by isoelectric focusing using polyacrylamide gels. The Pharmacia Phastsystem was utilized for electrophoresis in miniature gels to identify heterozygotes for the deficiency. Protein phenotypes were identified by isoelectric focusing in a fixed pH gradient from 4.3 to...

human alpha 1-antitrypsin (aat) cdna was obtained from hepg2 cell lines. after pcr and construction of expression vector ppiczα-aat, human aat was expressed in the yeast pichia pastoris (p.pastoris) in a secretary manner and under the control of inducible alcohol oxidase 1 (aox1) promoter. the amount of aat protein in medium was measured as 60 mg/l 72 hr after induction with methanol. results i...

Alpha-1-antitrypsin (AAT) is a protease inhibitor which plays an important role of protector of the lung tissues against the proteolytic effect of elastase secreted from neutrophils. Its deficiency is associated with liver disease in children and emphysema in adults. So far, more than 75 variants of this protein are defined, but most of the cases of AAT deficiency are caused by homozygosis for ...

Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 820 Goals, Organization of the Project, and Timeline . . . . . 820 Summary of Main Recommendations Regarding Diagnosis and Management by the Alpha-1 Antitrypsin Deficiency Task Force . . . . . . . . . . . . . 820 Clinical Recognition of AAT Deficiency . . . . . . . . . . 820 Genetic Testing for AAT Deficiency . ....

The common Z mutant (Glu342Lys) of alpha(1)-antitrypsin results in the formation of polymers that are retained within hepatocytes. This causes liver disease whilst the plasma deficiency of an important proteinase inhibitor predisposes to emphysema. The Thr114Phe and Gly117Phe mutations border a surface cavity identified as a target for rational drug design. These mutations preserve inhibitory a...

A Belgian alpha-1-antitrypsin (AAT) deficiency registry has been established in 2003. Currently 55 patients are included. At the same time, a working group has been set up for publishing national guidelines. In 2014, several Belgian patients founded Alpha-1 Global. We hope that the integrated activities of all the stakeholders involved in AAT deficiency will permit a high quality care for all p...