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antitrypsin deficiency

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https://www.readbyqxmd.com/read/28449136/-alpha-2-macroglobulin-serum-level-in-patients-with-alpha-1-antitrypsin-deficiency
#1
V Kotke, S Wiedmann, C Nell, C Vogelmeier, R Bals, T Greulich, A Klemmer
Background and objectives Alpha-2 Macroglobulin (A2M) is a plasma protein with proteolytic effects on many proteases. In patients with an inborn alpha-1 antitrypsin deficiency (AATD) the homeostasis between proteases and antiproteases is disturbed. The aim of this study was to compare the levels of AAT and A2 M in patients and controls. We hypothesized that in patients with AATD A2 M levels are elevated. Methods Patients with AATD (polymorphism Pi*ZZ, Pi*SZ, Pi*MZ and rare gene variants) as well as healthy volunteers (Pi*MM) were tested for A2 M and AAT levels...
April 27, 2017: Pneumologie
https://www.readbyqxmd.com/read/28448535/alpha-1-antitrypsin-supplementation-improves-alveolar-macrophages-efferocytosis-and-phagocytosis-following-cigarette-smoke-exposure
#2
Karina A Serban, Daniela N Petrusca, Andrew Mikosz, Christophe Poirier, Angelia D Lockett, Lauren Saint, Matthew J Justice, Homer L Twigg, Michael A Campos, Irina Petrache
Cigarette smoking (CS), the main risk factor for COPD (chronic obstructive pulmonary disease) in developed countries, decreases alveolar macrophages (AM) clearance of both apoptotic cells and bacterial pathogens. This global deficit of AM engulfment may explain why active smokers have worse outcomes of COPD exacerbations, episodes characterized by airway infection and inflammation that carry high morbidity and healthcare cost. When administered as intravenous supplementation, the acute phase-reactant alpha-1 antitrypsin (A1AT) reduces the severity of COPD exacerbations in A1AT deficient (AATD) individuals and of bacterial pneumonia in murine models, but the effect of A1AT on AM scavenging functions has not been reported...
2017: PloS One
https://www.readbyqxmd.com/read/28425234/alpha-1-antitrypsin-levels-and-polymorphisms-in-interstitial-lung-diseases
#3
Nalan Demir, Özlem Erçen Diken, Halil Gürhan Karabulut, Demet Karnak, Oya Kayacan
BACKGROUND/AIM: Alpha-1 antitrypsin deficiency may be a potential predisposing factor for interstitial lung fibrosis. We investigated alpha-1 antitrypsin levels and its polymorphisms in patients with interstitial lung disease. MATERIALS AND METHODS: A total of 103 interstitial lung disease patients were compared. RESULTS: The mean alpha-1 antitrypsin level in idiopathic interstitial pneumonia patients was 1.67 ± 0.33 g/L, and it was 1.54 ± 0...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28419579/erdj3-has-an-essential-role-for-z-variant-alpha-1-antitrypsin-degradation
#4
Nazli Khodayari, George Marek, Yuanqing Lu, Karina Krotova, Rejean Liqun Wang, Mark Brantly
Alpha-1-antitrypsin deficiency (AATD) is an inherited disease characterized by emphysema and liver disease. AATD is most often caused by a single amino acid substitution at amino acid 342 in the mature protein, resulting in the Z mutation of the alpha-1-antitrypsin gene (ZAAT). This substitution is associated with misfolding and accumulation of ZAAT in the endoplasmic reticulum (ER) of hepatocytes and monocytes, causing a toxic gain of function. Retained ZAAT is eliminated by ER-associated degradation and autophagy...
April 17, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28416015/costs-and-health-related-quality-of-life-in-alpha-1-antitrypsin-deficient-copd-patients
#5
Florian M Karl, Rolf Holle, Robert Bals, Timm Greulich, Rudolf A Jörres, Annika Karch, Armin Koch, Stefan Karrasch, Reiner Leidl, Holger Schulz, Claus Vogelmeier, Margarethe E Wacker
BACKGROUND: Alpha-1-Antitrypsin Deficiency (AATD) is an economically unexplored genetic disease. METHODS: Direct and indirect costs (based on self-reported information on healthcare utilization) and health-related quality of life (HRQL, as assessed by SGRQ, CAT, and EQ-5D-3 L) were compared between 131 AATD patients (106 with, 25 without augmentation therapy (AT)) and 2,049 COPD patients without AATD participating in the COSYCONET COPD cohort. The medication costs of AT were excluded from all analyses to reveal differences associated with morbidity profiles...
April 17, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28409899/genetic-variation-of-the-alpha-1-antitrypsin-gene-is-associated-with-increased-autoantibody-production-in-rheumatoid-arthritis
#6
Cormac McCarthy, Carl Orr, Laura Fee, Danielle M Dunlea, David J L Hunt, Eimear Dunne, Tomás P Carroll, Paul O'Connell, Geraldine McCarthy, Dermot Kenny, Ursula Fearon, Douglas J Veale, Emer P Reeves, Noel G McElvaney
OBJECTIVE: To examine the prevalence of alpha-1 antitrypsin (AAT) deficiency (AATD) in rheumatoid arthritis (RA), and to determine if AATD is associated with higher levels of rheumatoid factor (RF), antinuclear antibodies (ANA) and anti-citrullinated peptide auto-antibodies (ACPA). METHODS: RF, ANA and ACPA were measured by standard immunoturbidimetry, immunofluorescence and ELISA, respectively. Characterisation of AAT phenotypes was performed by isoelectric focussing and immunofixation...
April 13, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28408179/5-year-expression-and-neutrophil-defect-repair-after-gene-therapy-in-alpha-1-antitrypsin-deficiency
#7
Christian Mueller, Gwladys Gernoux, Alisha M Gruntman, Florie Borel, Emer P Reeves, Roberto Calcedo, Farshid N Rouhani, Anthony Yachnis, Margaret Humphries, Martha Campbell-Thompson, Louis Messina, Jeffrey D Chulay, Bruce Trapnell, James M Wilson, Noel G McElvaney, Terence R Flotte
Alpha-1 antitrypsin deficiency is a monogenic disorder resulting in emphysema due principally to the unopposed effects of neutrophil elastase. We previously reported achieving plasma wild-type alpha-1 antitrypsin concentrations at 2.5%-3.8% of the purported therapeutic level at 1 year after a single intramuscular administration of recombinant adeno-associated virus serotype 1 alpha-1 antitrypsin vector in alpha-1 antitrypsin deficient patients. We analyzed blood and muscle for alpha-1 antitrypsin expression and immune cell response...
April 10, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28380308/alpha-1-antitrypsin-pi-mz-genotype-is-associated-with-copd-in-two-racial-groups
#8
Marilyn G Foreman, Carla Wilson, Dawn L DeMeo, Craig P Hersh, Terri H Beaty, Michael H Cho, John Ziniti, Douglas Curran-Everett, Gerard Criner, John E Hokanson, Mark Brantly, Farshid N Rouhani, Robert A Sandhaus, James D Crapo, Edwin K Silverman
RATIONALE: Alpha-1 antitrypsin deficiency, primarily caused by homozygosity for the Z allele of the SERPINA1 gene, is a well-established genetic cause of chronic obstructive pulmonary disease (COPD). Whether the heterozygous PI MZ genotype for alpha-1 antitrypsin confers increased risk for COPD has been debated. OBJECTIVES: We analyzed 8271 subjects in the COPDGene Study, hypothesizing that PI MZ would independently associate with COPD and COPD-related phenotypes...
April 5, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28367219/alpha-1-antitrypsin-deficiency-presenting-with-mpo-anca-associated-vasculitis-and-aortic-dissection
#9
Bram M Voorzaat, Jan van Schaik, Stijn L P Crobach, Catharina S P van Rijswijk, Joris I Rotmans
The combination of alpha-1 antitrypsin (AAT) deficiency, ANCA-vasculitis, and aortic aneurysm has been rarely described in literature. We report an eventually fatal case in a 70-year-old patient who initially presented with giant cell arteritis and ANCA associated glomerulonephritis. Several years later, he presented with aortic dissection due to large vessel vasculitis, raising the suspicion of AAT deficiency, as two first-line relatives had chronic obstructive pulmonary disease, while they never smoked. This diagnosis was confirmed by AAT electrophoresis and immunohistochemistry on a temporal artery biopsy...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28364818/liver-transplantation-in-alpha-1-antitrypsin-deficiency
#10
REVIEW
Virginia C Clark
Alpha-1 antitrypsin (AAT) deficiency is a common inherited metabolic disorder caused by a point mutation in the SERPIN1A gene. A small portion of homozygous PI*ZZ individuals develop severe liver disease that requires liver transplantation. Posttransplant survival is excellent. The largest burden of advanced liver disease lies within the adult population rather than children. Evaluation of lung function in adults before transplant is essential because of the underlying risk for chronic obstructive pulmonary disease...
May 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28362108/alpha1-antitrypsin-deficient-macrophages-have-increased-matriptase-mediated-proteolytic-activity
#11
Karina Krotova, George W Marek, Rejean L Wang, George Aslanidi, Brad E Hoffman, Nazli Khodayari, Farshid N Rouhani, Mark L Brantly
Alpha1-antitrypsin (AAT) deficiency-associated emphysema is largely attributed to insufficient inhibition of neutrophil elastase released from neutrophils. Correcting AAT levels by augmentation therapy only slows disease progression; the absence of full recovery indicates a more complex process of lung destruction. Because alveolar macrophages (Mɸ) express AAT, we propose that the expression and intracellular accumulation of mutated Z-AAT (the most common mutation is called Z) compromise Mɸ function and contribute to emphysema development...
March 31, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28356380/understanding-at-risk-subgroups-for-lung%C3%A2-function-impairment-in-life-long-nonsmokers-with-%C3%AE-1-antitrypsin-deficiency
#12
EDITORIAL
Victor E Ortega, Matteo Pecchiari
No abstract text is available yet for this article.
March 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28356373/maximal-mid-expiratory-flow-detects-early-lung-disease-in-%C3%AE-1-antitrypsin-deficiency
#13
James A Stockley, Asem M Ismail, Siân M Hughes, Ross Edgar, Robert A Stockley, Elizabeth Sapey
Pathological studies suggest that loss of small airways precedes airflow obstruction and emphysema in chronic obstructive pulmonary disease (COPD). Not all α1-antitrypsin deficiency (AATD) patients develop COPD, and measures of small airways function might be able to detect those at risk.Maximal mid-expiratory flow (MMEF), forced expiratory volume in 1 s (FEV1), ratio of FEV1/forced vital capacity (FVC), health status, presence of emphysema (computed tomography (CT) densitometry) and subsequent decline in FEV1 were assessed in 196 AATD patients...
March 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28331304/does-urinary-peptide-content-differ-between-copd-patients-with-and-without-inherited-alpha-1-antitrypsin-deficiency
#14
Alfonso Carleo, Joanna Chorostowska-Wynimko, Thomas Koeck, Harald Mischak, Małgorzata Czajkowska-Malinowska, Adriana Rozy, Tobias Welte, Sabina Janciauskiene
Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also for improving personalized therapies. This pilot study aimed to investigate whether urinary peptides reflect the A1AT-related phenotypes of COPD. Urine samples from 19 clinically stable COPD cases (7 PiMM and 12 PiZZ A1AT) were analyzed by capillary electrophoresis coupled to mass spectrometry...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28328804/liver-function-in-alpha-1-antitrypsin-deficient-individuals-at-37-to-40-years-of-age
#15
Behrouz Mostafavi, Sandra Diaz, Hanan A Tanash, Eeva Piitulainen
Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown. The risk of liver disease in adults with moderate AAT deficiency (PiSZ) is also unknown. A cohort of 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull individuals were identified by the Swedish national neonatal AAT screening program between 1972 and 1974, when all 200,000 newborn infants in Sweden were screened for AAT deficiency. The cohort has been followed up since birth...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28326955/a-challenging-case-of-severe-infantile-cholestasis-in-alpha-1-antitrypsin-deficiency
#16
Zahida Khan, Veena L Venkat, Kyle A Soltys, Donna B Stolz, Sarangarajan Ranganathan
Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of alpha-1 antitrypsin deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28306356/an-epidemiological-overview-of-chronic-obstructive-pulmonary-disease-what-can-real-life-data-tell-us-about-disease-management
#17
Joan B Soriano
Chronic obstructive pulmonary disease (COPD) is a common condition, associated with increasing age and smoking exposure. COPD is a leading cause of morbidity, mortality and health care expenditure worldwide; yet, only 10-15% of all cases are identified medically. Alpha-1-antitrypsin deficiency (AATD) is responsible for about 1% of COPD cases but is also largely under-recognised, leading to diagnostic delay and missed treatment opportunities in patients who remain undetected. New evidence has recently highlighted the extent of overlap between COPD and bronchiectasis and the implications of comorbidity on clinical course and mortality...
March 15, 2017: COPD
https://www.readbyqxmd.com/read/28306355/alpha-1-antitrypsin-deficiency-disease-management-and-learning-from-studies
#18
Timm Greulich
Alpha-1-antitrypsin deficiency (AATD) is one of the most frequent genetic causes of liver and lung diseases. Despite its known association with chronic obstructive pulmonary disease (COPD), AATD is largely unrecognised and underdiagnosed. Cases of AATD exist within every COPD or spirometry population but must be actively investigated. AATD is a laboratory diagnosis that must be confirmed by a blood test. A number of clinical 'clues' can raise suspicion of AATD, potentially facilitating earlier diagnosis and initiation of appropriate treatment...
March 15, 2017: COPD
https://www.readbyqxmd.com/read/28301499/svip-regulates-z-variant-alpha-1-antitrypsin-retro-translocation-by-inhibiting-ubiquitin-ligase-gp78
#19
Nazli Khodayari, Rejean Liqun Wang, George Marek, Karina Krotova, Mariana Kirst, Chen Liu, Farshid Rouhani, Mark Brantly
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder characterized by early-onset emphysema and liver disease. The most common disease-causing mutation is a single amino acid substitution (Glu/Lys) at amino acid 342 of the mature protein, resulting in disruption of the 290-342 salt bridge (an electrophoretic abnormality defining the mutation [Z allele, or ZAAT]), protein misfolding, polymerization, and accumulation in the endoplasmic reticulum of hepatocytes and monocytes. The Z allele causes a toxic gain of function, and the E3 ubiquitin ligase gp78 promotes degradation and increased solubility of endogenous ZAAT...
2017: PloS One
https://www.readbyqxmd.com/read/28295475/downregulation-of-hnf-4%C3%AE-and-defective-zonation-in-livers-expressing-mutant-z-%C3%AE-1-antitrypsin
#20
Pasquale Piccolo, Patrizia Annunziata, Leandro R Soria, Sergio Attanasio, Anna Barbato, Raffaele Castello, Annamaria Carissimo, Luca Quagliata, Luigi M Terracciano, Nicola Brunetti-Pierri
α1 -antitrypsin (AAT) deficiency is one of the most common genetic disorders and the liver disease due to the Z mutant of α1 -antitrypsin (ATZ) is a prototype of conformational disorder due to misfolding of protein with consequent aberrant intermolecular protein aggregation. In the present study, we found that livers of PiZ transgenic mice expressing the human ATZ have altered expression of a network of hepatocyte transcriptional factors including HNF4-α, that is early downregulated and induces a transcriptional repression of ATZ expression...
March 15, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
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