alpha 1-antitrypsin deficiency


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alpha 1-antitrypsin deficiency

A disorder caused most frequently by a mutation in the SERPINA 1 gene, causing the Z-allele with a substitution of lysine for glutamic acid at position 342. Alpha 1-antitrypsin is mainly produced in the liver and is protective against the proteolytic enzyme neutrophil elastase that can damage the air sacs in the lungs and the cells of the liver. People with alpha 1-antitrypsin deficiency are more prone than normal to EMPHYSEMA and to certain forms of liver disease. It is responsible for 25 per cent of deaths from juvenile liver cirrhosis. A strong case has been made that this was the disease from which the composer Frédéric Chopin died.
References in periodicals archive ?
The effect of augmentation therapy with any alpha 1-proteinase inhibitor (alpha 1-PI) on pulmonary exacerbations and on the progression of emphysema in alpha 1-antitrypsin deficiency has not been demonstrated in randomized, controlled clinical trials.
Steven Tuffin, 27, of Maghull, was born with a rare genetic liver condition - alpha 1-antitrypsin deficiency.
Serum alpha 1-antitrypsin deficiency associated with the common S-type (glu264--val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion.
According to Halperin, the 50-year-old has been diagnosed with Alpha 1-antitrypsin deficiency, a genetic condition that can be fatal in severe cases.
Screening for homozygous and heterozygous alpha 1-antitrypsin deficiency.
Mum-of-one Pauline, 41, of Edinburgh, a former nurse at the city's Royal Infirmary who has Alpha 1-antitrypsin deficiency, is now campaigning for all Scots lung disease sufferers to get oxygen at a cost of pounds 450 a month.
Despite these successful results, Crystal predicts that emphysema caused by alpha 1-antitrypsin deficiency will probably not be the first human disease treated by nasally administered gene therapy, since the disease is already treatable by other means.
Alpha 1-Antitrypsin Deficiency is an hereditary disease occasionally leading to hepatitis and cirrhosis.
BioScience processes recombinant and plasma-based proteins to treat haemophilia and other bleeding disorders; plasma-based therapies to treat immune deficiencies, alpha 1-antitrypsin deficiency, burns and shock, and other chronic and acute blood-related conditions; products for regenerative medicine, such as biosurgery products; and vaccines.
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).
Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency.
BioScience - manufactures recombinant and plasma-based proteins to treat haemophilia and other bleeding disorders; plasma-based therapies to treat immune deficiencies, alpha 1-antitrypsin deficiency, burns and shock, and other chronic and acute blood-related conditions; products for regenerative medicine, such as biosurgery products and technologies used in adult stem-cell therapies; and vaccines.