Alpha-1 antitrypsin deficiency is a recently identified genetic disease that occurs almost as frequently as cystic fibrosis. It is caused by various mutations in the SERPINA1 gene, and has numerous clinical implications. Alpha-1 antitrypsin is mainly produced in the liver and acts as an antiprotease. Its principal function is to inactivate neutrophil elastase, preventing tissue damage. The muta...

* Author for correspondence: Professor Sharique Ahmed, Allied Health Division, College of Health Sciences, Kingdom of Bahrain. Email [email protected]. Abstract. Alpha-1-antitrypsin is an acute phase protein which is up-regulated in acute phase responses to tissue necrosis and inflammation. It belongs to a class of inhibitors called ‘’Serpins’’ (serine protease inhibitors). Human plasma con...

ALPHA-I-antitrypsin deficiency associated with n chronic obstructive airway disease was recognized in 1963 by Laurell and Ericksson. I In 1969, . Sharp' described the first cases of alpha-l-antitrypsin-deficiency disease in children with cirrhosis. Since then, this ·inborn error has been recognized as one of the more common factors in cirrhosis of infancy and childhood,] including "neonatal hep...

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...

Faecal alpha 1 antitrypsin was measured in two groups of children with diarrhoea aged 6 months to 6 years during the acute and recovery stages of the illness. Group 1 comprised 19 children with a history of measles in the two weeks preceding admission to hospital. In this group there were six cases of Shigella species, six enterotoxigenic Escherichia coli, and five rotavirus, and two did not yi...

Huntington's disease is an autosomal dominantly inherited disease that usually starts in midlife and inevitably leads to death. In our effort to identify proteins involved in processes upstream or downstream of the disease-causing huntingtin, we studied the proteome of a well established mouse model by large gel two-dimensional electrophoresis. We could demonstrate for the first time at the pro...

α1-antitrypsin deficiency is the most widely recognised genetic disorder causing chronic obstructive pulmonary disease (COPD). Mutant Z α1-antitrypsin expression has previously been linked to intracellular accumulation and polymerisation of this proteinase inhibitor. Subsequently, this has been described to underlie an exaggerated endoplasmic reticulum stress response and enhanced nuclear facto...

Increased extracellular proteolysis because of unregulated activation of blood coagulation, complement, and fibrinolysis is observed in thrombosis, shock, and inflammation. In the present study, we have examined whether the plasma kallikrein-kinin system, the classical pathway of complement, and the fibrinolytic system could be inhibited by alpha 1-antitrypsin reactive site mutants. Wild-type a...

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...