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Ace mutation

Dounin Danielle Zoh, Ludovic Phamien Ahoua Alou, Mahama Toure, Cédric Pennetier, Soromane Camara, Dipomin François Traore, Alphonsine Amanan Koffi, Akré Maurice Adja, Ahoua Yapi, Fabrice Chandre
BACKGROUND: Several studies were carried out in experimental hut station in areas surrounding the city of Bouaké, after the crisis in Côte d'Ivoire. They reported increasing resistance levels to insecticide for malaria transmiting mosquitoes. The present work aims to evaluate the current resistance level of An. gambiae (s.l.) in rural and urban areas in the city of Bouaké. METHODS: Larvae of Anopheles gambiae (s.l.) were collected from five different study sites and reared to adult stages...
March 2, 2018: Parasites & Vectors
Fatim-Zohra Tmimi, Chafika Faraj, Meriem Bkhache, Khadija Mounaji, Anna-Bella Failloux, M'hammed Sarih
BACKGROUND: Control of the mosquito vector Culex pipiens with insecticides is the main way to control arboviruses that the species can transmit such as West Nile virus (WNV) and Rift Valley fever virus (RVFV). However, its efficiency has been hampered by the emergence of insecticide resistance. Little is known about the insecticide-resistance status and underlying resistance mechanisms of field-collected populations of Cx. pipiens in Morocco. METHODS: Mosquito adults from Mohammadia city in Morocco were reared from immature stages...
January 22, 2018: Parasites & Vectors
Soromane Camara, Alphonsine A Koffi, Ludovic P Ahoua Alou, Kouakou Koffi, Jean-Paul K Kabran, Aboubacar Koné, Mathieu F Koffi, Raphaël N'Guessan, Cédric Pennetier
BACKGROUND: Insecticide resistance in malaria vectors is an increasing threat to vector control tools currently deployed in endemic countries. Resistance management must be an integral part of National Malaria Control Programmes' (NMCPs) next strategic plans to alleviate the risk of control failure. This obviously will require a clear database on insecticide resistance to support the development of such a plan. The present work gathers original data on insecticide resistance between 2009 and 2015 across Côte d'Ivoire in West Africa...
January 8, 2018: Parasites & Vectors
Ye Yuan, Lin Meng, Yan Zhou, Na Lu
BACKGROUND: Genetic factors in the pathogenesis of cardiomyopathies have received a lot of attention during the past 2 decades. Some studies have reported that angiotensin-converting enzyme (ACE) gene has been associated with hypertrophic cardiomyopathy (HCM). However, there have been inconsonant results among different studies. To clarify the influence of ACE on HCM, a systemic review and meta-analysis of case-control studies were performed. METHODS: The following databases were searched to indentify related studies: PubMed database, the Embase database, the Cochrane Central Register of Controlled Trials database, China National Knowledge Information database, and Chinese Scientific and Technological Journal database...
December 2017: Medicine (Baltimore)
Pascal Milesi, Benoît S Assogba, Célestine M Atyame, Nicolas Pocquet, Arnaud Berthomieu, Sandra Unal, Patrick Makoundou, Mylène Weill, Pierrick Labbé
Gene duplications occur at a high rate. Although most appear detrimental, some homogeneous duplications (identical gene copies) can be selected for beneficial increase in produced proteins. Heterogeneous duplications, which combine divergent alleles of a single locus, are seldom studied due to the paucity of empirical data. We investigated their role in an ongoing adaptive process at the ace-1 locus in Culex pipiens mosquitoes. We assessed the worldwide diversity of the ace-1 alleles (single-copy, susceptible S and insecticide-resistant R, and duplicated D that pair one S and one R copy), analysed their phylogeography and measured their fitness to understand their early dynamics using population genetics models...
December 12, 2017: Molecular Ecology
Luisa Nardini, Richard H Hunt, Yael L Dahan-Moss, Nanette Christie, Riann N Christian, Maureen Coetzee, Lizette L Koekemoer
BACKGROUND: The Democratic Republic of the Congo (DRC) is characterized as a holoendemic malaria area with the main vectors being Anopheles funestus and members of the Anopheles gambiae complex. Due to political instability and socio-economic challenges in the region, knowledge of insecticide resistance status and resistance mechanisms in these vectors is limited. Mosquitoes were collected from a mining site in the north-eastern part of the country and, following identification, were subjected to extensive testing for the target-site and biochemical basis of resistance...
November 7, 2017: Malaria Journal
Jenny F Seligmann, Ace J Hatch, Susan D Richman, Faye Elliott, Bart Jacobs, Sarah Brown, Herbert Hurwitz, Jennifer H Barrett, Philip Quirke, Andrew B Nixon, Matthew T Seymour
Importance: Epidermal growth factor receptor (EGFR) (HER1) signaling depends on ligand binding and dimerization with itself or other HER receptors. We previously showed in a randomized trial that high EGFR ligand expression is predictive of panitumumab benefit in advanced colorectal cancer. Tumor expression of HER3 may further refine the RAS wild-type (wt) population benefitting from anti-EGFR agents. Objective: To examine HER3 messenger RNA expression as a prognostic and predictive biomarker for anti-EGFR therapy in a randomized clinical trial of panitumumab...
October 26, 2017: JAMA Oncology
Andrew M Hammond, Kyros Kyrou, Marco Bruttini, Ace North, Roberto Galizi, Xenia Karlsson, Nace Kranjc, Francesco M Carpi, Romina D'Aurizio, Andrea Crisanti, Tony Nolan
Gene drives have enormous potential for the control of insect populations of medical and agricultural relevance. By preferentially biasing their own inheritance, gene drives can rapidly introduce genetic traits even if these confer a negative fitness effect on the population. We have recently developed gene drives based on CRISPR nuclease constructs that are designed to disrupt key genes essential for female fertility in the malaria mosquito. The construct copies itself and the associated genetic disruption from one homologous chromosome to another during gamete formation, a process called homing that ensures the majority of offspring inherit the drive...
October 2017: PLoS Genetics
Janice P Van Zee, Catherine A Hill
The availability of genome assemblies and other genomic resources is facilitating investigations of complex genetic traits for several species of ticks. Understanding the genetics of acaricide resistance is a priority for tick and tick-borne disease control. The synaptic enzyme acetylcholinesterase (ACE) is recognized as the target of organophosphates (OPs) and carbamates, and mutations in ACE have been tied to resistance. Multiple studies support three ACE (ace) loci in R. microplus but the molecular basis of OP-resistance in this tick remains elusive...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
Zhixin Huo, Xiaoguang Luo, Xiaoni Zhan, Qiaohong Chu, Qin Xu, Jun Yao, Hao Pang
The causal mutations and genetic polymorphisms associated with susceptibility to Parkinson's disease (PD) have been extensively described. To explore the potential contribution of insertion (I)/deletion (D) polymorphisms (indels) to the risk of PD in a Chinese population, we performed genetic analyses of indel loci in ACE, DJ-1, and GIGYF2 genes. Genomic DNA was extracted from venous blood of 348 PD patients and 325 age- and sex-matched controls without neurodegenerative disease. Genotyping of the indel loci was performed by fragment length analysis after PCR and DNA sequencing...
2017: PloS One
Uwe Platzbecker, Ulrich Germing, Katharina S Götze, Philipp Kiewe, Karin Mayer, Jörg Chromik, Markus Radsak, Thomas Wolff, Xiaosha Zhang, Abderrahmane Laadem, Matthew L Sherman, Kenneth M Attie, Aristoteles Giagounidis
BACKGROUND: Myelodysplastic syndromes are characterised by ineffective erythropoiesis. Luspatercept (ACE-536) is a novel fusion protein that blocks transforming growth factor beta (TGF β) superfamily inhibitors of erythropoiesis, giving rise to a promising new investigative therapy. We aimed to assess the safety and efficacy of luspatercept in patients with anaemia due to lower-risk myelodysplastic syndromes. METHODS: In this phase 2, multicentre, open-label, dose-finding study (PACE-MDS), with long-term extension, eligible patients were aged 18 years or older, had International Prognostic Scoring System-defined low or intermediate 1 risk myelodysplastic syndromes or non-proliferative chronic myelomonocytic leukaemia (white blood cell count <13 000/μL), and had anaemia with or without red blood cell transfusion support...
October 2017: Lancet Oncology
Jean-Desire Rakotoson, Christen M Fornadel, Allison Belemvire, Laura C Norris, Kristen George, Angela Caranci, Bradford Lucas, Dereje Dengela
BACKGROUND: Insecticide-based vector control, which comprises use of insecticide-treated bed nets (ITNs) and indoor residual spraying (IRS), is the key method to malaria control in Madagascar. However, its effectiveness is threatened as vectors become resistant to insecticides. This study investigated the resistance status of malaria vectors in Madagascar to various insecticides recommended for use in ITNs and/or IRS. METHODS: WHO tube and CDC bottle bioassays were performed on populations of Anopheles gambiae (s...
August 23, 2017: Parasites & Vectors
Dianhao Guo, Jiapeng Luo, Yuenan Zhou, Huamei Xiao, Kang He, Chuanlin Yin, Jianhua Xu, Fei Li
BACKGROUND: Insecticide resistance is a substantial problem in controlling agricultural and medical pests. Detecting target site mutations is crucial to manage insecticide resistance. Though PCR-based methods have been widely used in this field, they are time-consuming and inefficient, and typically have a high false positive rate. Acetylcholinesterases (Ace) is the neural target of the widely used organophosphate (OP) and carbamate insecticides. However, there is not any software available to detect insecticide resistance associated mutations in RNA-Seq data at present...
July 10, 2017: BMC Bioinformatics
Francesca Liut, Claudia Izzi, Nadia Dallera, Francesco Scolari
Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal parenchyma and development of End Stage Renal Disease (ESRD) in about 50% of affected individuals at the age of 60 years. Extrarenal disease usually involves the liver, heart and vasculature...
March 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Juliane Herm, Berthold Hoppe, Bob Siegerink, Christian H Nolte, Jürgen Koscielny, Karl Georg Haeusler
BACKGROUND: While twin studies indicate a genetic component in arterial thrombosis such as ischemic stroke, myocardial infarction (MI), or peripheral arterial occlusive disease (PAOD), the clinical relevance of hemostatic polymorphisms in arterial thrombosis is a matter of debate. METHODS: We analyzed the prevalence of 13 hemostatic polymorphisms [PAI-1, PLAT, F5 (including factor V Leiden and HR2 haplotype), F2, F7, F13A, FGB, TFPI, THBD, MTHFR, ACE, and ITGA2] in patients referred to a tertiary referral center...
2017: Frontiers in Cardiovascular Medicine
Zhe Hong, Liying Pan, Jiali Fei, Zhangqing Ma, Zongyuan Hong
BACKGROUND: It is generally believed that essential hypertension is influenced by both genetic and environmental factors, as well as their interactions. Tissue kallikrein encoded by the tissue kallikrein gene (KLK1) is a key serine proteinase of kallikrein-kinin system, which is capable of generating potent vasactive peptides, kinins, by selective cleavage of the kininogen substrate. It was reported that the A2233 → C polymorphism in KLK1 gene is associated with essential hypertension...
2017: Clinical and Experimental Hypertension: CHE
Emmanouil A Fotakis, Alexandra Chaskopoulou, Linda Grigoraki, Alexandros Tsiamantas, Stella Kounadi, Loukas Georgiou, John Vontas
Greece has been recently affected by several mosquito borne diseases with the West Nile Virus (WNV) outbreak in 2010 being one of the largest reported in Europe. Currently at the epicenter of an economic and refugee crisis and visited by over 16 million tourists a year the integrated management of diseases transmitted by mosquitoes is a public health and economic priority. Vector control programs rely mainly on insecticides, however data on insecticide resistance and the mosquito fauna is essential for successful applications...
October 2017: Acta Tropica
Rizwan Masud, Haider Zaigham Baqai
Homocysteine and its modulating genes have strongly emerged as novel biomarkers for coronary artery disease (CAD). In the present study, we investigated whether polymorphisms in homocysteine pathway genes and the plasma levels of homocysteine, folate, and vitamin B12, independently or in combination, are associated with CAD risk. A total of 504 participants were recruited (cases, n = 254; controls, n = 250, respectively). Tetra primer allele refractory mutation system polymerase chain reaction (PCR) was used for resolving the genotypes of 5'10' methylenetetrahydrofolate reductase 'MTHFR' polymorphisms (rs1801133, rs1801131), 5' methyl tetrahydrofolate homocysteine methyltransferase 'MTR' polymorphism (rs1805087), paroxanse1 'PON1' polymorphism (rs662), and cystathionine beta synthase 'CBS' polymorphism (rs5742905)...
October 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
Yiting Wang, Yingwang Zhao, Junlin Zhang, Yuxiang Yang, Fang Liu
AIMS: Precise diagnosis of maturity-onset diabetes of the young (MODY) has proven valuable for understanding mechanism of diabetes and selecting optimal therapy. A proband and her mother with diabetic kidney disease (DKD) were studied to investigate potential genes responsible for diabetes and different severity of DKD between the parent and offspring. METHODS: The family with suspected MODY underwent mutational analyses by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing and tested for co-segregation...
November 15, 2016: Journal of Diabetes and its Complications
Camila Lopes Veronez, Faradiba Sarquis Serpa, João Bosco Pesquero
No abstract text is available yet for this article.
June 2017: Annals of Allergy, Asthma & Immunology
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