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A1ATAlpha-1 Anti-Trypsin
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Some people with A1AT deficiency can bring up a lot of sputum when they cough.
A new pure preparation of A1AT was made for value transfer to RPPHS; the preparation used for RPSP-4 was found to contain complexes that altered the value assignment.
The majority of analytes examined (albumin, ALP, AGP, A1AT, ALT, amylase, AST, C3, C4, ceruloplasmin, cholesterol, CK, chloride, CRP, iron, GGT, haptoglobin, HDL-C, IgA, IgG, IgM, LDH, STfR, total protein, transferrin, uric acid, and urea) showed marked individuality, with II values of <0.
The paper entitled, "Targeted Gene Correction of Alpha 1-Antitrypsin Deficiency in Induced Pluripotent Stem Cells" describes highly specific and efficient ZFN-mediated correction of a defective human A1AT gene in iPSCs derived from skin cells from individuals with alpha 1-antitrypsin deficiency (A1ATD).
3) describe a liquid chromatography-tandem mass spectrometry (LC-MS/MS) approach for determining both the phenotype and the A1AT concentration in a single assay, in contrast to the usual approach of running 2 independent assays involving different techniques.
Intrexon is using its synthetic DNA platform for high-level expression of recombinant A1AT for the potential treatment of diseases resulting from genetic alpha 1-antitrypsin deficiency such as genetic emphysema.
A1AT is a relatively polymorphic gene, with > 100 polymorphisms identified (6).
Patients underwent annual lung function testing and, in September 2005, all patients were offered A1AT testing.
A1AT deficiency is a relatively common condition that is characterized by decreased concentrations of plasma A1AT.
A1AT is produced in the liver, released into the circulation, and enters the lungs by diffusion, where it inhibits neutrophil elastase (3).
Testing for A1AT deficiency may be of benefit in patients with chronic hepatic injury and no other apparent cause, although the role of A1AT deficiency in liver disease in adults is not clearly defined (IIB).
Two allelic variants, PiZ and PiS, frequently lead to A1AT deficiency, which can manifest clinically as emphysema and, less frequently, as liver disease in neonates (2).