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alpha-1 antitrypsin

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https://www.readbyqxmd.com/read/28929906/the-important-role-of-primary-care-providers-in-the-detection-of-alpha-1-antitrypsin-deficiency
#1
Jorge E Lascano, Michael A Campos
OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder that can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all COPD cases. METHODS: PubMed was searched for relevant articles using AAT/AATD-related terms. RESULTS: Unfortunately, <10% of symptomatic individuals have been properly diagnosed primarily due to the underdiagnosis of COPD and the lack of awareness of AATD as a possible underlying cause...
September 20, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28927525/alpha-1-antitrypsin-deficiency-genetic-variations-clinical-manifestations-and-therapeutic-interventions
#2
REVIEW
Younis Mohammad Hazari, Arif Bashir, Mudasir Habib, Samirul Bashir, Huma Habib, M Abul Qasim, Naveed Nazir Shah, Ehtishamul Haq, Jeffrey Teckman, Khalid Majid Fazili
Alpha-1-antitrypsin (AAT) is an acute phase secretory glycoprotein that inhibits neutrophil proteases like elastase and is considered as the archetype of a family of structurally related serine-protease inhibitors termed serpins. Serum AAT predominantly originates from liver and increases three to five fold during host response to tissue injury and inflammation. The AAT deficiency is unique among the protein-misfolding diseases in that it causes target organ injury by both loss-of-function and gain-of-toxic function mechanisms...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28922398/role-of-the-p2-residue-of-human-alpha-1-antitrypsin-in-determining-target-protease-specificity
#3
Hye-Shin Chung, Ji-Sun Kim, Sang Mee Lee, Soon Jae Park
Alpha 1-antitrypsin (A1AT) is a serine protease inhibitor that mainly inhibits neutrophil elastase in the lungs. A variant of A1AT at the P1 position with methionine 358 to arginine (A1AT-Pittsburgh) is a rapid inhibitor of thrombin with greatly diminished anti-elastase activity. The P2 residue (position 357) of A1AT-Pittsburgh has been shown to play an important role in interactions with thrombin and kallikrein, but the role of P2 residue in wild-type A1AT has largely been unraveled. Here, we investigated the effects of P2 proline substitutions in wild-type A1AT on interactions with porcine pancreatic elastase (PPE) and human neutrophil elastase (HNE)...
2017: PloS One
https://www.readbyqxmd.com/read/28918045/cationic-nanoliposomes-meet-mrna-efficient-delivery-of-modified-mrna-using-hemocompatible-and-stable-vectors-for-therapeutic-applications
#4
Tatjana Michel, Daniel Luft, Meike-Kristin Abraham, Sabrina Reinhardt, Martha L Salinas Medina, Julia Kurz, Martin Schaller, Meltem Avci-Adali, Christian Schlensak, Karlheinz Peter, Hans Peter Wendel, Xiaowei Wang, Stefanie Krajewski
Synthetically modified mRNA is a unique bioactive agent, ideal for use in therapeutic applications, such as cancer vaccination or treatment of single-gene disorders. In order to facilitate mRNA transfections for future therapeutic applications, there is a need for the delivery system to achieve optimal transfection efficacy, perform with durable stability, and provide drug safety. The objective of our study was to comprehensively analyze the use of 3β-[N-(N',N'-dimethylaminoethane) carbamoyl](DC-Cholesterol)/dioleoylphosphatidylethanolamine (DOPE) liposomes as a potential transfection agent for modified mRNAs...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28915894/cardiovascular-risk-in-patients-with-alpha-1-antitrypsin-deficiency
#5
Sebastian Fähndrich, Frank Biertz, Annika Karch, Björn Kleibrink, Armin Koch, Helmut Teschler, Tobias Welte, Hans-Ulrich Kauczor, Sabina Janciauskiene, Rudolf A Jörres, Timm Greulich, Claus F Vogelmeier, Robert Bals
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease. The comorbidities in patients with AATD-related lung diseases are not well defined. The aim of this study was to analyze the clinical phenotype of AATD patients within the German COPD cohort study COSYCONET ("COPD and SYstemic consequences-COmorbidities NETwork") cohort focusing on the distribution of comorbidities...
September 15, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28889108/survival-in-individuals-with-severe-alpha-1-antitrypsin-deficiency-pizz-in-comparison-to-a-general-population-with-known-smoking-habits
#6
Hanan A Tanash, Magnus Ekström, Eva Rönmark, Anne Lindberg, Eeva Piitulainen
Knowledge about the natural history of severe alpha 1-antitrypsin (AAT) deficiency (PiZZ) is limited. Our aim was to compare the survival of PiZZ individuals with randomly selected controls from the Swedish general population.The PiZZ subjects (n=1585) were selected from the Swedish National AATD Register. The controls (n=5999) were randomly selected from the Swedish population register. Smoking habits were known for all subjects.Median follow-up times for the PiZZ subjects (731 never-smokers) and controls (3179 never-smokers) were 12 and 17 years, respectively (p<0...
September 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28887821/serpina1-and-man1b1-polymorphisms-are-not-linked-to-severe-liver-disease-in-a-french-cohort-of-alpha-1-antitrypsin-deficiency-children
#7
Philippe Joly, Alain Lachaux, Mathias Ruiz, Lioara Restier, Abdelhouaed Belmalih, Colette Chapuis-Cellier, Alain Francina, Céline Renoux, Marion Bouchecareilh
BACKGROUND & AIMS: Fifteen to twenty percent of alpha-1 antitrypsin deficiency patients (A1ATD) have a severe liver outcome (portal hypertension - PHT) during childhood. Since they all share the same ZZSERPINA1 genotype and that environmental factors such as alcohol cannot be advanced, the presence of modifier genes is now well recognized. SNPs located on the SERPINA1 and MAN1B1 genes have already been tested in very few studies with contradictory or not replicated results. METHODS: Our genotype-phenotype correlation study, performed on 92 ZZ children, aimed at determining once and for all if SERPINA1 and MAN1B1 polymorphisms may be implied in the onset of PHT...
September 8, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28887542/genome-wide-analysis-of-health-related-biomarkers-in-the-uk-household-longitudinal-study-reveals-novel-associations
#8
Bram P Prins, Karoline B Kuchenbaecker, Yanchun Bao, Melissa Smart, Delilah Zabaneh, Ghazaleh Fatemifar, Jian'an Luan, Nick J Wareham, Robert A Scott, John R B Perry, Claudia Langenberg, Michaela Benzeval, Meena Kumari, Eleftheria Zeggini
Serum biomarker levels are associated with the risk of complex diseases. Here, we aimed to gain insights into the genetic architecture of biomarker traits which can reflect health status. We performed genome-wide association analyses for twenty serum biomarkers involved in organ function and reproductive health. 9,961 individuals from the UK Household Longitudinal Study were genotyped using the Illumina HumanCoreExome array and variants imputed to the 1000 Genomes Project and UK10K haplotypes. We establish a polygenic heritability for all biomarkers, confirm associations of fifty-four established loci, and identify five novel, replicating associations at genome-wide significance...
September 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28881426/autoantibody-production-in-rheumatoid-arthritis-associated-with-alpha-1-antitrypsin-deficiency-is-complex-and-likely-driven-by-inflammation-and-neutrophil-dysfunction
#9
Cormac McCarthy, Carl Orr, Ursula Fearon, Douglas J Veale, Emer P Reeves, Noel G McElvaney
We thank Drs Hutchinson and Eggleton for their interest in our report and for raising some interesting points. While we believe there is some merit in the issues they raise, we do not believe these invalidate the data we have presented or the conclusions we made in our initial report. This article is protected by copyright. All rights reserved.
September 7, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28879464/prevalence-of-subclinical-enteric-alpha-1-antitrypsin-loss-in-children-with-univentricular-circulation-following-total-cavopulmonary-connection
#10
Colm R Breatnach, Aoife Cleary, Terence Prendiville, Kathleen Crumlish, Helene Murchan, Colin J McMahon
Protein-Losing Enteropathy post Fontan palliation is associated with significant morbidity and mortality. To date, very little research has been carried out to improve early identification of enteric protein loss in these patients. We hypothesise that subclinical enteric protein loss may occur in patients post Fontan surgery. A cross-sectional study was performed on 43 patients post Fontan surgery. We collected specimens of stool and blood from patients with no symptoms of protein-losing enteropathy post Fontan...
September 6, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28875999/a-comparison-of-the-human-and-mouse-protein-corona-profiles-of-functionalized-sio2-nanocarriers
#11
A Solorio-Rodríguez, V Escamilla-Rivera, M Uribe-Ramírez, A Chagolla, R Winkler, C M García-Cuellar, A De Vizcaya-Ruiz
Nanoparticles are a promising cancer therapy for their use as drug carriers given their versatile functionalization with polyethylene glycol and proteins that can be recognized by overexpressed receptors in tumor cells. However, it has been suggested that in biological fluids, proteins cover nanoparticles, which gives the proteins a biological identity that could be responsible for unexpected biological responses: the so-called protein corona. A relevant biological event that is usually ignored in protein-corona formation is the interspecies differences in protein binding, which can be involved in the discrepancies observed in preclinical studies and the nanoparticle safety and efficiency...
September 21, 2017: Nanoscale
https://www.readbyqxmd.com/read/28870784/isotypes-of-autoantibodies-against-differentially-expressed-novel-malondialdehyde-modified-peptide-adducts-in-serum-of-taiwanese-women-with-rheumatoid-arthritis
#12
Chen-Chung Liao, Yu-Sheng Chang, Chao-Wen Cheng, Wei-Ming Chi, Kai-Leun Tsai, Wei-Jung Chen, Ting-Shuan Kung, Chih-Chun Tai, Yi-Fang Lin, Hung-Tse Lin, Yi-Ying Lu, Ching-Yu Lin
This study identified and validated four differentially expressed novel malondialdehyde (MDA)-modified peptide adducts and evaluated autoantibodies against native and MDA-modified peptides among Taiwanese women patients with rheumatoid arthritis (RA), osteoarthritis (OA) and healthy controls (HCs). Ig kappa chain C region(76-99), alpha-1-antitrypsin(284-298), alpha-2-macroglobulin(824-841), and apolipoprotein B-100(4022-4040) exhibiting 2-fold differences in relative modification ratios were identified by concanavalin A (Con A) affinity chromatography, 1D SDS-PAGE, in-gel digestion, nano-LC/MS/MS and nano-LC/MS using pooled serum-derived Con A-captured proteins from 9 RA and 9 age-matched HCs...
September 1, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28837509/a-rare-phenotype-of-alpha-1-antitrypsin-deficiency-due-to-pi-is-in-a-newborn-with-liver-disease
#13
Alice C Huang, Carla Perez, Lina Felipez, Gabriel Chamyan, Milton J Finegold, Erick Hernandez
No abstract text is available yet for this article.
August 23, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28833662/survival-after-lung-transplantation-in-recipients-with-alpha-1-antitrypsin-deficiency-compared-to-other-forms-of-chronic-obstructive-pulmonary-disease-a-national-cohort-study
#14
Brian C Gulack, Michael S Mulvihill, Asvin M Ganapathi, Paul J Speicher, Godefroy Chery, Laurie D Snyder, R Duane Davis, Matthew G Hartwig
INTRODUCTION: Alpha-1-Antitrypsin deficiency (AATD) is grouped with chronic obstructive pulmonary disease (COPD); however, this may not be appropriate. This study assessed whether AATD confers a different prognosis than COPD following lung transplantation. METHODS: We employed the UNOS database, grouping patients by diagnoses of AATD or COPD. Kaplan-Meier methods and Cox modeling were performed to determine the association of diagnosis and overall survival. RESULTS: Of 9569 patients, 1394 (14...
August 23, 2017: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/28819167/artificial-dnaj-protein-for-protein-production-and-conformational-diseases
#15
Akinori Hishiya, Keizo Koya
For secreted proteins, proper protein folding is essential not only for biological function but also for secretion itself. Proteins with folding problems are trapped in the endoplasmic reticulum (ER) and are eventually degraded in the cytoplasm. In this study, we exploited co-expression of an artificial fusion protein, based on the sequence of a DnaJ protein, which could interact as co-chaperones in the Hsp70-based protein-folding system, with target recombinant secreted proteins to enhance their production and secretion...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814853/improving-adherence-to-alpha-1-antitrypsin-deficiency-screening-guidelines-using-the-pulmonary-function-laboratory
#16
Landy V Luna Diaz, Isabella Iupe, Bruno Zavala, Kira C Balestrini, Andrea Guerrero, Gregory Holt, Rafael Calderon-Candelario, Mehdi Mirsaeidi, Michael Campos
No abstract text is available yet for this article.
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28783388/supraclavicular-aneurysm-as-a-presentation-of-alpha-1-antitrypsin-deficiency
#17
Pablo Ruiz-Sada, Mikel Eskalante-Boleas, Iker Garay-Hidalgo, Lara Palacios-García
No abstract text is available yet for this article.
August 2, 2017: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/28769553/clinical-utility-of-alpha-1-proteinase-inhibitor-in-the-management-of-adult-patients-with-severe-alpha-1-antitrypsin-deficiency-a-review-of-the-current-literature
#18
REVIEW
David G Parr, Beatriz Lara
Alpha-1 antitrypsin (AAT) functions primarily to inhibit neutrophil elastase, and its deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). The putative protective serum concentration is generally considered to be above a threshold of 11 μM/L, and therapeutic augmentation of AAT above this value is believed to retard the progression of emphysema. Several AAT preparations, all derived from human donor plasma, have been commercialized since approval by the US Food and Drug Administration (FDA) in 1987...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28762562/co-expression-of-alpha-1-antitrypsin-with-cytoplasmic-domain-of-v-snare-in-pichia-pastoris-preserving-biological-activity-of-alpha-1-antitrypsin
#19
Maryam Khatami, Seyed Nezamedin Hosseini, Sadegh Hasannia
Alpha-1-antitrypsin (A1AT) is a major serum protein in human with protease inhibitory activity. Because of its extensive application in medicine, recombinant DNA technology has been considered for its production. The current study is going to examine co-expression of A1AT, and soluble domain of v-SNARE in Pichia pastoris, which can prevent the secretion of A1AT after passing the secretory pathway thoroughly. This was done mainly to preserve the biological activity of A1AT which in the secretory mode might be impaired in the fermentation and early clarification conditions...
August 1, 2017: Biotechnology and Applied Biochemistry
https://www.readbyqxmd.com/read/28759613/acute-phase-proteins-as-prospective-risk-markers-for-arterial-stiffness-the-malm%C3%A3-diet-and-cancer-cohort
#20
Iram Faqir Muhammad, Yan Borné, Gerd Östling, Cecilia Kennbäck, Mikael Gottsäter, Margaretha Persson, Peter M Nilsson, Gunnar Engström
BACKGROUND AND OBJECTIVES: Arterial stiffness plays a significant role in the development and progression of adverse cardiovascular events and all-cause mortality. This observational study aims to explore the relationship between six acute phase proteins namely, ceruloplasmin, alpha-1-antitrypsin, orosomucoid, haptoglobin, complement C3 and C-reactive protein (CRP), and carotid-femoral pulse wave velocity (c-f PWV) in a population-based cohort, and to also explore the effect of low-grade inflammation on the relationship between diabetes and c-f PWV...
2017: PloS One
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