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ataxia telangiectasia mutated

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https://www.readbyqxmd.com/read/28724653/haplodeficiency-of-ataxia-telangiectasia-mutated-accelerates-heart-failure-after-myocardial-infarction
#1
Lixin Jia, Wenmei Zhang, Youcai Ma, Boya Chen, Yan Liu, Chunmei Piao, Yuan Wang, Min Yang, Tingting Liu, Junmeng Zhang, Taotao Li, Shaoping Nie, Jie Du
BACKGROUND: Cell senescence is involved in the process of organ damage and repair; however, the underlying molecular mechanism needs to be further explored. METHODS AND RESULTS: Senescence-related genes (ie, p21, p53, and ataxia telangiectasia mutated [ATM]) were shown to be elevated after myocardial infarction (MI) in both mouse and human hearts. Ten- to 12-week-old male wild-type littermates (ATM(+/+)) and ATM heterozygous mice (ATM(+/-)) were subjected to MI...
July 19, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28716242/a-novel-pathogenic-variant-in-an-iranian-ataxia-telangiectasia-family-revealed-by-next-generation-sequencing-followed-by-in-silico-analysis
#2
Mohammad Amin Tabatabaiefar, Paria Alipour, Azam Pourahmadiyan, Najmeh Fattahi, Laleh Shariati, Neda Golchin, Javad Mohammadi-Asl
Ataxia telangiectasia (A-T) is a neurodegenerative autosomal recessive disorder with the main characteristics of progressive cerebellar degeneration, sensitivity to ionizing radiation, immunodeficiency, telangiectasia, premature aging, recurrent sinopulmonary infections, and increased risk of malignancy, especially of lymphoid origin. Ataxia Telangiectasia Mutated gene, ATM, as a causative gene for the A-T disorder, encodes the ATM protein, which plays an important role in the activation of cell-cycle checkpoints and initiation of DNA repair in response to DNA damage...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28714848/hepatitis-b-virus-x-protein-activates-e3-ubiquitin-ligase-siah-1-to-control-virus-propagation-via-a-negative-feedback-loop
#3
Sujeong Yeom, Soo Shin Kim, Hyerin Jeong, Kyung Lib Jang
The seven in absentia homologue 1 (Siah-1) protein is an E3 ubiquitin ligase that induces ubiquitin-dependent proteasomal degradation of HBx, the principal regulatory protein of hepatitis B virus (HBV); however, its role in HBV propagation remains unknown. Here, we found that HBx upregulates Siah-1 levels in HepG2 but not in Hep3B cells, in which p53 is absent. For this effect, HBx sequentially activated ataxia telangiectasia mutated kinase and checkpoint kinase 2 via phosphorylation at the Ser-1981 and Thr-68 residues, respectively, which led to the activation of p53 via phosphorylation at the Ser-15 and Ser-20 residues...
July 17, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28710345/deletion-of-the-b-b-and-c-c-regions-of-inverted-terminal-repeats-reduces-raav-productivity-but-increases-transgene-expression
#4
Qingzhang Zhou, Wenhong Tian, Chunguo Liu, Zhonghui Lian, Xiaoyan Dong, Xiaobing Wu
Inverted terminal repeats (ITRs) of the adeno-associated virus (AAV) are essential for rescue, replication, packaging, and integration of the viral genome. While ITR mutations have been identified in previous reports, we designed a new truncated ITR lacking the B-B' and C-C' regions named as ITRΔBC and investigated its effects on viral genome replication, packaging, and expression of recombinant AAV (rAAV). The packaging ability was compared between ITRΔBC rAAV and wild-type (wt) ITR rAAV. Our results showed the productivity of ITRΔBC rAAV was reduced 4-fold, which is consistent with the 8-fold decrease in the replication of viral genomic DNA of ITRΔBC rAAV compared with wt ITR rAAV...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28701397/b-cell-specific-atm-expression-promotes-chronic-gammaherpesvirus-infection
#5
Eric J Darrah, Joseph M Kulinski, Wadzanai P Mboko, Gang Xin, Laurent P Malherbe, Stephen B Gauld, Weiguo Cui, Vera L Tarakanova
Manipulation of host cellular pathways is a strategy employed by gammaherpesviruses, including mouse gammaherpesvirus 68 (MHV68), in order to negotiate a chronic infection. Ataxia-telangiectasia mutated (ATM) plays a unique yet incompletely understood role in gammaherpesvirus infection as it has both proviral and antiviral effects. Chronic gammaherpesvirus infection is poorly controlled in the host with global ATM insufficiency, whether the host is a mouse or a human. In contrast, ATM facilitates replication, reactivation, and latency establishment of several gammaherpesviruses in vitro, suggesting that ATM is proviral in the context of infected cell cultures...
July 12, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28693235/japanese-apricot-extract-mk615-potentiates-bendamustine-induced-apoptosis-via-impairment-of-the-dna-damage-response-in-lymphoma-cells
#6
Masaya Inoue, Yoshio Honma, Takeshi Urano, Junji Suzumiya
Bendamustine, a hybrid molecule of a purine analog and alkylator, induces cell death by the activation of apoptosis and the DNA damage response. The agent MK615 is produced from Japanese apricot and contains a number of cyclic triterpenes that exhibit antitumor activities. In the present study, the combined effects of bendamustine and MK615 on lymphoma cells were investigated. The combined compounds synergistically induced apoptosis in all lymphoid cell lines examined. MK615 inhibited the bendamustine-induced phosphorylation of checkpoint kinase 1 and 2...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28689661/nuclear-acetyl-coa-production-by-acly-promotes-homologous-recombination
#7
Sharanya Sivanand, Seth Rhoades, Qinqin Jiang, Joyce V Lee, Joseph Benci, Jingwen Zhang, Salina Yuan, Isabella Viney, Steven Zhao, Alessandro Carrer, Michael J Bennett, Andy J Minn, Aalim M Weljie, Roger A Greenberg, Kathryn E Wellen
While maintaining the integrity of the genome and sustaining bioenergetics are both fundamental functions of the cell, potential crosstalk between metabolic and DNA repair pathways is poorly understood. Since histone acetylation plays important roles in DNA repair and is sensitive to the availability of acetyl coenzyme A (acetyl-CoA), we investigated a role for metabolic regulation of histone acetylation during the DNA damage response. In this study, we report that nuclear ATP-citrate lyase (ACLY) is phosphorylated at S455 downstream of ataxia telangiectasia mutated (ATM) and AKT following DNA damage...
July 1, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28679388/atm-splicing-variants-as-biomarkers-for-low-dose-dexamethasone-treatment-of-a-t
#8
Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D'Agnano, Annarosa Soresina, Roberto Micheli, Mauro Magnani
BACKGROUND: Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this syndrome. Nevertheless, the molecular mechanism underlying the glucocorticoid action in AT patients is not yet understood. Recently, we have demonstrated that Dexamethasone treatment may partly restore ATM activity in AT lymphoblastoid cells by a new ATM transcript, namely ATMdexa1...
July 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28669123/retraction-note-to-the-crucial-role-of-cyclin-dependent-kinase-5-ataxia-telangiectasia-mutated-axis-in-ich-induced-neuronal-injury-of-rat-model
#9
Jing Wu, Xin Zhang, Yi Yan, Zhaohua Tang, Xiaochuan Sun, Gang Huo, Zhengbu Liao
No abstract text is available yet for this article.
July 1, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28662958/targeting-atr-in-cancer-medicine
#10
REVIEW
Raghav Sundar, Jessica Brown, Alvaro Ingles Russo, Timothy A Yap
DNA damage occurs continually through various intrinsic and extrinsic mechanisms such as ultraviolet radiation, smoking, reactive oxygen species, and errors during replication. The cellular DNA damage response (DDR) comprises signaling networks that regulate a spectrum of processes, including cell cycle progression, which enable DNA repair to occur. Ataxia telangiectasia mutated (ATM) and ataxia telangiectasia mutated and rad3-related (ATR) kinase are 2 key regulators of the DDR cell cycle checkpoints. ATR plays an essential role in the repair of replication-associated DNA damage, while ATM is activated by DNA double-strand breaks...
May 17, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/28657667/germline-genetic-variants-in-men-with-prostate-cancer-and-one-or-more-additional-cancers
#11
Patrick G Pilié, Anna M Johnson, Kristen L Hanson, Megan E Dayno, Ashley L Kapron, Elena M Stoffel, Kathleen A Cooney
BACKGROUND: Prostate cancer has a significant heritable component, and rare deleterious germline variants in certain genes can increase the risk of the disease. The aim of the current study was to describe the prevalence of pathogenic germline variants in cancer-predisposing genes in men with prostate cancer and at least 1 additional primary cancer. METHODS: Using a multigene panel, the authors sequenced germline DNA from 102 men with prostate cancer and at least 1 additional primary cancer who also met ≥1 of the following criteria: 1) age ≤55 years at the time of diagnosis of the first malignancy; 2) rare tumor type or atypical presentation of a common tumor; and/or 3) ≥3 primary malignancies...
June 28, 2017: Cancer
https://www.readbyqxmd.com/read/28654064/detection-and-visualization-of-dna-damage-induced-protein-complexes-in-suspension-cell-cultures-using-the-proximity-ligation-assay
#12
Mahnoush Bahjat, Timon A Bloedjes, Amélie van der Veen, Guus de Wilde, Chiel Maas, Jeroen E J Guikema
The DNA damage response orchestrates the repair of DNA lesions that occur spontaneously, are caused by genotoxic stress, or appear in the context of programmed DNA breaks in lymphocytes. The Ataxia-Telangiectasia Mutated kinase (ATM), ATM- and Rad3-Related kinase (ATR) and the catalytic subunit of DNA-dependent Protein Kinase (DNA-PKcs) are among the first that are activated upon induction of DNA damage, and are central regulators of a network that controls DNA repair, apoptosis and cell survival. As part of a tumor-suppressive pathway, ATM and ATR activate p53 through phosphorylation, thereby regulating the transcriptional activity of p53...
June 9, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28642860/ataxia-telangiectasia-mutated-atm-polymorphisms-and-risk-of-lung-cancer-in-a-chinese-population
#13
Ajay A Myneni, Shen-Chih Chang, Rungui Niu, Li Liu, Baoxing Zhao, Jianping Shi, Xiaoyou Han, Jiawei Li, Jia Su, Shunzhang Yu, Zuo-Feng Zhang, Lina Mu
BACKGROUND: The ataxia telangiectasia-mutated (ATM) gene has a key role in DNA repair including activation and stabilization of p53, which implicates the importance of ATM polymorphisms in the development of cancer. This study aims to investigate the association of two ATM single-nucleotide polymorphisms (SNPs) with lung cancer, as well as their potential interaction with p53 gene and other known risk factors of lung cancer. METHODS: A population-based case-control study was conducted in Taiyuan city, China with 399 cases and 466 controls matched on the distribution of age and sex of cases...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#14
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28627265/atm-radiation-and-the-risk-of-second-primary-breast-cancer
#15
Jonine L Bernstein, Patrick Concannon
PURPOSE: It was first suggested more than 40 years ago that heterozygous carriers for the human autosomal recessive disorder Ataxia-Telangiectasia (A-T) might also be at increased risk for cancer. Subsequent studies have identified the responsible gene, Ataxia-Telangiectasia Mutated (ATM), characterized genetic variation at this locus in A-T and a variety of different cancers, and described the functions of the ATM protein with respect to cellular DNA damage responses. However, an overall model of how ATM contributes to cancer risk, and in particular, the role of DNA damage in this process, remains lacking...
June 19, 2017: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/28624372/taming-tricky-dsbs-atm-on-duty
#16
REVIEW
Thomas Clouaire, Aline Marnef, Gaëlle Legube
Ataxia Telangiectasia Mutated (ATM) has been known for decades as the main kinase mediating the DNA Double-Strand Break Response (DDR). Extensive studies have revealed its dual role in locally promoting detection and repair of DSBs as well as in activating global DNA damage checkpoints. However, recent studies pinpoint additional unanticipated functions for ATM in modifying both the local chromatin landscape and the global chromosome organization, more particularly at persistent breaks. Given the emergence of a novel and unexpected class of DSBs prevalently arising in transcriptionally active genes and intrinsically difficult to repair, a specific role of ATM at refractory DSBs could be an important and so far overlooked feature of Ataxia Telangiectasia (A-T) a severe disorder associated with ATM mutations...
June 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28613105/rug3-is-a-negative-regulator-of-plant-responses-to-aba-in-arabidopsis-thaliana
#17
Chao Su, Jinhong Yuan, Hongtao Zhao, Yankun Zhao, Hongtao Ji, Youning Wang, Xia Li
Mitochondria is a main target of various stressors. Dysfunction of mitochondria stimulates overproduction of reactive oxygen species (ROS), which can cause oxidative damage to mitochondria and DNA. Recently, we demonstrated that RCC1/UVR8/GEF-like 3 (RUG3), a member of the Regulator of Chromatin Condensation 1 (RCC1) protein family, can directly interact with ataxia telangiectasia mutated (ATM), a key regulator of the DNA damage response (DDR), and synergistically regulates the alternative splicing of mitochondrial nad2...
June 14, 2017: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/28612525/-the-role-of-dna-double-strain-damage-repairing-mechanisms-in-diabetic-atheroscolersis
#18
Li Zeng, Qun-Fang Ding, Ting-Yuan Xu, Fang Luo, Ning Ge, Shi-Tong Li
OBJECTIVES: To identify the role of DNA double-strain damage repairing pathway in the development of diabetics atherosclerosis. METHODS: Wistar male rats were randomly divided into three groups: control group (group A), balloon injury group (group B) and diabetes + balloon injury group (group C). Streptozotocin (STZ) was injected into rat abdomen to induce diabetes. After stabilizing high glucose, rats in group B and group C were both under aortic balloon injury technique and fed high lipid forage post-operatively...
March 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28607003/p21-maintains-senescent-cell-viability-under-persistent-dna-damage-response-by-restraining-jnk-and-caspase-signaling
#19
Reut Yosef, Noam Pilpel, Nurit Papismadov, Hilah Gal, Yossi Ovadya, Ezra Vadai, Stav Miller, Ziv Porat, Shifra Ben-Dor, Valery Krizhanovsky
Cellular senescence is a permanent state of cell cycle arrest that protects the organism from tumorigenesis and regulates tissue integrity upon damage and during tissue remodeling. However, accumulation of senescent cells in tissues during aging contributes to age-related pathologies. A deeper understanding of the mechanisms regulating the viability of senescent cells is therefore required. Here, we show that the CDK inhibitor p21 (CDKN1A) maintains the viability of DNA damage-induced senescent cells. Upon p21 knockdown, senescent cells acquired multiple DNA lesions that activated ataxia telangiectasia mutated (ATM) and nuclear factor (NF)-κB kinase, leading to decreased cell survival...
June 12, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28605880/js-k-a-nitric-oxide-prodrug-induces-dna-damage-and-apoptosis-in-hbv-positive-hepatocellular-carcinoma-hepg2-2-15-cell
#20
Zhengyun Liu, Guangmin Li, Ying Gou, Dongyan Xiao, Guo Luo, Joseph E Saavedra, Jie Liu, Huan Wang
Hepatocellular carcinoma (HCC) is the most important cause of cancer-related death, and 85% of HCC is caused by chronic HBV infection, the prognosis of patients and the reduction of HBV DNA levels remain unsatisfactory. JS-K, a nitric oxide-releasing diazeniumdiolates, is effective against various tumors, but little is known on its effects on HBV positive HCC. We found that JS-K reduced the expression of HBsAg and HBeAg in HBV-positive HepG2.2.15 cells. This study aimed to further examine anti-tumor effects of JS-K on HepG2...
August 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
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