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Adenosine deaminase

Funda Erol Cipe, Cigdem Aydogmus, Nina K Serwas, Gonca Keskindemirci, Kaan Boztuğ
PURPOSE: Adenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients present with stroke episodes and rashes mimicking polyarteritis nodosa (PAN). We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2. METHODS: We reviewed medical records and clinical history of the patient. No mutations in other known neutropenia genes such as ELA, G6PC3, HAX1, AP3B1, LAMTOR2, VPS13B, VPS45, GFI1, JAGN1, or WAS could be detected...
March 21, 2018: Journal of Clinical Immunology
Basant Kumar, Vijai Dutta Upadhyaya, Sandeep Kumar Rahul, Laxmi Kant Bharti, Ram Nawal Rao, Sheo Kumar
Background: To analyse our experience with acute presentations of abdominal tuberculosis (TB) in children for early diagnosis and management. Materials and Methods: From December 2010 to April 2016, available electronic and operation theatre (OT) records of 17 patients with confirmed diagnosis of abdominal TB were analysed retrospectively. Parameters reviewed were age, sex, presentations, diagnostic investigations, surgery/intervention performed, final outcome and follow-up...
July 2017: African Journal of Paediatric Surgery: AJPS
Tianzhou Zha, Haorong Wu
This study investigated the expression of adenosine monophosphate deaminase 1 (AMPD1) in serum of patients with papillary thyroid carcinoma (PTC) and its clinical significance. The expression levels of AMPD1 mRNA in serum of 157 patients with PTC and 100 normal controls were detected by real-time fluorescent quantitative polymerase chain reaction (PCR), and the relationships between expression level of AMPD1 in serum of PTC patients and clinicopathological factors as well as prognosis were analyzed. The results of real-time fluorescent quantitative PCR showed that the expression of AMPD1 mRNA in serum of PTC patients was lower than that in normal human serum (P<0...
April 2018: Experimental and Therapeutic Medicine
Weizhi Yu, Hong Xu, Ying Xue, Dong An, Huairui Li, Wei Chen, Deqin Yu, Yiping Sun, Jianmei Ma, Yiyuan Tang, Zhaoyang Xiao, Shengming Yin
Introduction: Social isolation enhances the aggressive behavior of animals, but the detailed mechanism remains unclear. Epigenetic studies have suggested that Htr2c RNA editing is closely related to aggressive behavior. This study aims to obtain a fundamental understanding of how social isolation impacts adenosine deaminase acting on RNA 1 (ADAR1, RNA editing enzyme) and Htr2c RNA editing, leading to aggressive behavior, and explore the effective solutions for the recovery of this behavior...
March 2018: Brain and Behavior
Wei Hu, Xian Shi, Hongwen Li, Luzhu Chen, Tingmei Wang, Yingying Dong, Yanhong Zhang, Man Hu, Xiaoli Liu, Caie Zhang, Dongxian Liu, Yunhua Deng
BACKGROUND: Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). DSH patients display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities, and freckle-like macules on the face. AIMS: To provide new evidence for further study of the etiopathogenisis of DSH. METHODS: Genomic DNA was extracted and used as a template for the polymerase chain reaction (PCR) amplification of all 15 coding exons as well as intron-exon boundaries of ADAR1...
March 12, 2018: Indian Journal of Dermatology, Venereology and Leprology
Atsushi Nagayasu, Satoshi Kubo, Kazuhisa Nakano, Shingo Nakayamada, Shigeru Iwata, Ippei Miyagawa, Shunsuke Fukuyo, Kazuyoshi Saito, Yoshiya Tanaka
An 81-year-old man was admitted with bilateral pleural effusion. A clinical examination showed lymphocytic pleura effusion and elevated serum IgG4 levels, so that IgG4-related disease was suggested, whereas tuberculous pleurisy was suspected because of high adenosine deaminase (ADA) levels in the pleural effusion. A surgical pleural biopsy revealed that there were large numbers of IgG4-positive cells and IgG4/IgG positive cell ratio exceeded 40% in several sites. Accordingly, we diagnosed IgG4-related pleuritis and treated with the patient with glucocorticoid therapy...
March 9, 2018: Internal Medicine
Sadegh Fattahi, Elham Ghadami, Mohsen Asouri, Ali Motevalizadeh Ardekanid, Haleh Akhavan-Niaki
Breast cancer is a heterogeneous and multifactorial disease with variable disease progression risk, and treatment response. Urtica dioica is a traditional herb used as an adjuvant therapeutic agent in cancer. In the present study, we have evaluated the effects of the aqueous extract of Urtica dioica on Adenosine deaminase (ADA) and Ornithine decarboxylase (ODC1) gene expression in MCF-7, MDA-MB-231, two breast cancer cell lines being estrogen receptor positive and estrogen receptor negative, respectively.  Cell lines were cultured in suitable media...
February 28, 2018: Cellular and Molecular Biology
Shenglan Qi, Huida Guan, Gang Deng, Tao Yang, Xuemei Cheng, Wei Liu, Ping Liu, Changhong Wang
Adenosine deaminase (ADA), which is a key enzyme in the metabolism of purine nucleosides, plays important roles in diverse disorders, such as tuberculosis, diabetes, liver disorders, and cancer. Determination of the activities of ADA and its isoenzymes in body fluids has received considerable attention in the diagnosis and treatment of relative diseases. Ultraviolet spectroscopy with adenosine (AD) as a substrate is a classical approach for screening potential ADA inhibitors by measuring the decrease in substrate (AD) at 265 nm or increase in the product (inosine) at 248 nm...
February 22, 2018: Journal of Pharmaceutical and Biomedical Analysis
Estefanía Moreno, Júlia Canet, Eduard Gracia, Carme Lluís, Josefa Mallol, Enric I Canela, Antoni Cortés, Vicent Casadó
Adenosine is an endogenous purine nucleoside that acts in all living systems as a homeostatic network regulator through many pathways, which are adenosine receptor (AR)-dependent and -independent. From a metabolic point of view, adenosine deaminase (ADA) is an essential protein in the regulation of the total intracellular and extracellular adenosine in a tissue. In addition to its cytosolic localization, ADA is also expressed as an ecto-enzyme on the surface of different cells. Dipeptidyl peptidase IV (CD26) and some ARs act as binding proteins for extracellular ADA in humans...
2018: Frontiers in Pharmacology
Yuji Odagaki, Masakazu Kinoshita, Toshio Ota, J Javier Meana, Luis F Callado, Isao Matsuoka, Jesús A García-Sevilla
Adenosine signaling plays a complex role in multiple physiological processes in the brain, and its dysfunction has been implicated in pathophysiology of neuropsychiatric diseases such as schizophrenia and affective disorders. In the present study, the coupling between adenosine A1 receptor and G-protein was assessed by means of two [35 S]GTPγS binding assays, i.e., conventional filtration method and [35 S]GTPγS binding/immunoprecipitation in rat and human brain membranes. The latter method provides information about adenosine A1 receptor-mediated Gαi-3 activation in rat as well as human brain membranes...
February 28, 2018: Purinergic Signalling
Askin Esen Hasturk, Cagdas Baran, Erdal Resit Yilmaz, Murat Arikan, Guray Togral, Nazli Hayirli, Berrin Imge Erguder, Oya Evirgen
Background: The aim of our study is to assess the neuroprotective effects of the tumor necrosis factor alpha (TNF-α) inhibitor etanercept (ETA) on histopathological and biochemical changes following spinal cord injury (SCI). Patients and Methods: Fifty-four male Wistar albino rats were randomly assigned into three main groups: The sham, trauma, and ETA group ( n = 18 per group). Each of these groups was further divided into three subgroups ( n = 6 per subgroup) based on the different tissue sampling times postinjury: 1 h, 6 h, and 24 h...
January 2018: Asian Journal of Neurosurgery
Amy E Pasquinelli
Adenosine deaminases that act on RNA (ADARs) convert adenosines (A) to inosines (I) in stretches of dsRNA. The biological purpose of these editing events for the vast majority of ADAR substrates is largely unknown. In this issue of Genes & Development, Reich and colleagues (pp. 271-282) demonstrate that in Caenorhabditis elegans , A-to-I editing in double-stranded regions of protein-coding transcripts protects these RNAs from targeting by the RNAi pathway. Disruption of this safeguard through loss of ADAR activity coupled with enhanced RNAi results in developmental abnormalities and profound changes in gene expression that suggest aberrant induction of an antiviral response...
February 1, 2018: Genes & Development
Carmen Fotino, Diego Dal Ben, Elena Adinolfi
BACKGROUND: Purinergic signaling accounts for a complex network of receptors and extracellular enzymes responsible for the generation, recognition and degradation of extracellular ATP and adenosine. The main actors of this system include P2X, P2Y and Adenosine Receptors, ectonucleotidases CD39 and CD73 and Adenosine Deaminase. The purinergic network recently emerged as a central player in several physiopathological conditions particularly those linked to immune system regulation including type 1 and type 2 diabetes...
February 26, 2018: Medicinal Chemistry
Sinead Marie O'Donovan, Courtney Sullivan, Rachael Koene, Emily Devine, Kathryn Hasselfeld, Cassidy Lynn Moody, Robert Erne McCullumsmith
Prior work in animal models implicates abnormalities of adenosine metabolism in astrocytes as a possible pathophysiological mechanism underlying the symptoms of schizophrenia. In the present study, we sought to reverse-translate these findings back to the human brain in schizophrenia, focusing on the following questions: (1) Which components of the adenosine system are dysregulated in schizophrenia, and (2) are these changes limited to astrocytes? To address these questions, we captured enriched populations of DLPFC pyramidal neurons and astrocytes from schizophrenia and control subjects using laser capture microdissection and assessed expression of adenosine system components using qPCR...
February 26, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
Daniel P Reich, Katarzyna M Tyc, Brenda L Bass
Cellular dsRNAs are edited by adenosine deaminases that act on RNA (ADARs). While editing can alter mRNA-coding potential, most editing occurs in noncoding sequences, the function of which is poorly understood. Using dsRNA immunoprecipitation (dsRIP) and RNA sequencing (RNA-seq), we identified 1523 regions of clustered A-to-I editing, termed editing-enriched regions (EERs), in four stages of Caenorhabditis elegans development, often with highest expression in embryos. Analyses of small RNA-seq data revealed 22- to 23-nucleotide (nt) siRNAs, reminiscent of viral siRNAs, that mapped to EERs and were abundant in adr-1;adr-2 mutant animals...
February 26, 2018: Genes & Development
Matheus D Baldissera, Carine F Souza, Jaqueline I Golombieski, Débora Seben, Letícia R Sippert, Joseânia Salbego, Enio Marchesan, Renato Zanella, Bernardo Baldisserotto
Thiamethoxam is a broad-spectrum pesticide widely used in agricultural practice throughout the world. Worryingly, this pesticide is considered a potential contaminant on the surface and underground water, being a significant risk to aquatic ecosystems and humans. In this sense, we decided to evaluate the activity of enzymes belonging to purinergic system, which is linked with regulation of extracellular nucleotides and nucleosides, as adenosine triphosphate (ATP) and adenosine (Ado) molecules involved in the regulation of immune and inflammatory responses...
February 26, 2018: Molecular and Cellular Biochemistry
Aline da Silva Pereira, Lizielle Souza de Oliveira, Thauan Faccin Lopes, Jucimara Baldissarelli, Taís Vidal Palma, Mayara Sandrielly Pereira Soares, Luiza Spohr, Vera Maria Morsch, Cinthia Melazzo de Andrade, Maria Rosa Chitolina Schetinger, Roselia Maria Spanevello
Diabetes Mellitus (DM) is associated with an increased susceptibility to various infections, which might be attributed to changes in immune response owing to chronic hyperglycemia. Nucleoside triphosphate diphosphohydrolase (NTPDase), 5'-nucleotidase, and adenosine deaminase (ADA) are important enzymes involved in the generation of anti-aggregant and anti-inflammatory microenvironments. The aim of this study was to evaluate the effect of gallic acid (GA) on the hematological parameters and ectonucleotidase activities in platelets, lymphocytes, and serum of diabetic rats...
February 21, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Mohammad Reza Bakhtiarizadeh, Abdolreza Salehi, Rocío Melissa Rivera
RNA editing increases the diversity of the transcriptome and proteome. Adenosine-to-inosine (A-to-I) editing is the predominant type of RNA editing in mammals and it is catalyzed by the adenosine deaminases acting on RNA (ADARs) family. Here, we used a largescale computational analysis of transcriptomic data from brain, heart, colon, lung, spleen, kidney, testes, skeletal muscle and liver, from three adult animals in order to identify RNA editing sites in bovine. We developed a computational pipeline and used a rigorous strategy to identify novel editing sites from RNA-Seq data in the absence of corresponding DNA sequence information...
2018: PloS One
Omer Karadag, David J Jayne
Polyarteritis nodosa (PAN) is a rare form of primary systemic vasculitis with heterogeneous presentations, treatments and disease course. Historical approaches to classification and diagnostic terminology are reviewed. Since differentiation of PAN from microscopic polyangiitis (MPA) and other ANCA vasculitides by the Chapel Hill conference statements, and with hepatitis associated PAN defined as a secondary vasculitis, the phenotyping and subclassification of PAN has received little attention. Monogenic disorders similar to PAN have been described (familial Mediterranean fever, Adenosine Deaminase-2 deficiency), and cutaneous PAN and single organ vasculitis, discussed...
February 20, 2018: Clinical and Experimental Rheumatology
Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A Berry, Guntram Borck, Katherine L Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R Lemke, Kerstin Kutsche
Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozygous AMPD2 frameshift variant has recently been reported in two family members with spastic paraplegia type 63 (SPG63)...
February 20, 2018: European Journal of Human Genetics: EJHG
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