A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.
نویسندگان
چکیده
منابع مشابه
Liver disease and alpha 1-antitrypsin deficiency.
Discovery of AAT deficiency by Laurell and Eriksson in 1963 [2] provided a foundation for current thinking about the pathogenesis of pulmonary emphysema [3,4]. Although AAT deficiency has become one of the best understood genetic disorders at a molecular and protein level, many questions about the clinical disease remain unanswered. Current American and International research projects should pr...
متن کاملAlpha- 1 Antitrypsin Deficiency in Children: Pulmonary Involvement
Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...
متن کاملAssessment of Alpha-1 Antitrypsin Deficiency in Patients with Severe Chronic Obstructive Pulmonary Disease
Background and Aims: Chronic obstructive pulmonary disease (COPD) is a kind of pulmonary diseases characterized by chronic obstruction of lung that is in the form of a diffuse narrowing of airways resulting in air flow resistance. Alpha-1 antitrypsin (AAT) deficiency is genetically relatively common risk factor in patients with COPD throughout the world and the exact cause of its prevalence is ...
متن کاملSurvival in severe alpha-1-antitrypsin deficiency (PiZZ)
BACKGROUND Previous studies of the natural history of alpha-1-antitrypsin (AAT) deficiency are mostly based on highly selected patients. The aim of this study was to analyse the mortality of PiZZ individuals. METHODS Data from 1339 adult PiZZ individuals from the Swedish National AAT Deficiency Registry, followed from 1991 to 2008, were analysed. Forty-three percent of these individuals were ...
متن کاملSynthesis of stress proteins is increased in individuals with homozygous PiZZ alpha 1-antitrypsin deficiency and liver disease.
Individuals who are homozygous for the protease inhibitor phenotype Z (PiZ) genetic variant of alpha 1-antitrypsin (alpha 1-AT) have reduced plasma concentrations of alpha 1-AT, and are susceptible to premature development of pulmonary emphysema. A subset of this population develops chronic liver disease. The reduction in plasma concentrations of alpha 1-AT results from a selective defect in se...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1994
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.91.19.9014