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https://www.readbyqxmd.com/read/28340109/mth1-an-8-oxo-2-deoxyguanosine-triphosphatase-and-myh-a-dna-glycosylase-cooperate-to-inhibit-mutations-induced-by-chronic-exposure-to-oxidative-stress-of-ionising-radiation
#1
Sara Shakeri Manesh, Traimate Sangsuwan, Ali Pour Khavari, Asal Fotouhi, S Noushin Emami, Siamak Haghdoost
Our previous results showed that in addition to the immediate interaction of ionising radiation with DNA (direct and indirect effect), low-dose and chronic low-dose rate of irradiation induce endogenous oxidative stress. During oxidative stress, free radicals react with DNA, nucleoside triphosphates (dNTPs), proteins and lipids, and modify their structures. The MYH and MTH1 genes play important roles in preventing mutations induced by 8-hydroxy-guanine, which is an oxidised product of guanine. In this study, we used short-hairpin RNA to permanently knockdown MYH and MTH1 proteins in human lymphoblastoid TK6 cells...
March 16, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28335001/fastkd1-and-fastkd4-have-opposite-effects-on-expression-of-specific-mitochondrial-rnas-depending-upon-their-endonuclease-like-rap-domain
#2
Erik Boehm, Sofia Zaganelli, Kinsey Maundrell, Alexis A Jourdain, Stéphane Thore, Jean-Claude Martinou
FASTK family proteins have been identified as regulators of mitochondrial RNA homeostasis linked to mitochondrial diseases, but much remains unknown about these proteins. We show that CRISPR-mediated disruption of FASTKD1 increases ND3 mRNA level, while disruption of FASTKD4 reduces the level of ND3 and of other mature mRNAs including ND5 and CYB, and causes accumulation of ND5-CYB precursor RNA. Disrupting both FASTKD1 and FASTKD4 in the same cell results in decreased ND3 mRNA similar to the effect of depleting FASTKD4 alone, indicating that FASTKD4 loss is epistatic...
March 10, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28334878/high-expression-of-ire1-in-lung-adenocarcinoma-is-associated-with-a-lower-rate-of-recurrence
#3
Toshio Sakatani, Keita Maemura, Noriko Hiyama, Yosuke Amano, Kousuke Watanabe, Hidenori Kage, Masashi Fukayama, Jun Nakajima, Yutaka Yatomi, Takahide Nagase, Daiya Takai
Objective: Recent reports have shown that endoplasmic reticulum stress is associated with cancer. However, the impacts of endoplasmic reticulum stress on the prognosis of lung cancer are unknown. Therefore, in this study, we sought to reveal the relationship between the expression of endoplasmic reticulum stress-related genes (endoplasmic reticulum oxidoreductase 1L, protein kinase RNA-like endoplasmic reticulum kinase, activating transcription factor 6 and inositol-requiring kinase 1) and the outcome of lung adenocarcinoma...
March 17, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28333351/ecological-impact-of-ciprofloxacin-on-commensal-enterococci-in-healthy-volunteers
#4
Victoire de Lastours, Elena Maugy, Vincent Mathy, Françoise Chau, Benjamin Rossi, François Guérin, Vincent Cattoir, Bruno Fantin
Background: The ecological impact of ciprofloxacin on commensal enterococci is unknown. Methods: Forty-eight healthy volunteers received ciprofloxacin from day (D) 0 to D14; stools were collected on D7, D14 and D42. Fluoroquinolone-susceptible and -resistant enterococci (FQ-SE and FQ-RE) were detected and quantified by culture, and identified by MALDI-TOF MS. The relative abundance of FQ-RE over FQ-SE was determined. The genetic basis of fluoroquinolone resistance was deciphered by partial sequencing of gyrA and parC genes...
March 4, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28332357/rare-frequency-of-mutations-in-pituitary-transcription-factor-genes-in-combined-pituitary-hormone-or-isolated-growth-hormone-deficiencies-in-korea
#5
Jin Ho Choi, Chang Woo Jung, Eungu Kang, Yoon Myung Kim, Sun Hee Heo, Beom Hee Lee, Gu Hwan Kim, Han Wook Yoo
PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD)...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28331348/molecular-detection-of-multidrug-resistant-tuberculosis-among-smear-positive-pulmonary-tuberculosis-patients-in-jigjiga-town-ethiopia
#6
Mussie Brhane, Ameha Kebede, Yohannes Petros
BACKGROUND: Molecular methods that target drug resistance mutations are suitable approaches for rapid drug susceptibility testing to detect multidrug-resistant tuberculosis (MDR-TB). The aim of the study was to determine MDR-TB cases and to analyze the frequency of gene mutations associated with rifampicin (RIF) and/or isoniazid (INH) resistance of Mycobacterium tuberculosis among smear-positive pulmonary tuberculosis patients. METHODS: Institution-based cross-sectional study design was employed...
2017: Infection and Drug Resistance
https://www.readbyqxmd.com/read/28328947/a-spontaneous-mutation-in-kdsd-a-biosynthesis-gene-for-3-deoxy-d-manno-octulosonic-acid-occurred-in-a-ciprofloxacin-resistant-strain-of-francisella-tularensis-and-caused-a-high-level-of-attenuation-in-murine-models-of-tularemia
#7
Taylor Chance, Jennifer Chua, Ronald G Toothman, Jason T Ladner, Jonathan E Nuss, Jo Lynne Raymond, Fabrice V Biot, Samandra Demons, Lynda Miller, Stephanie Halasohoris, Sherry Mou, Galina Koroleva, Sean Lovett, Gustavo Palacios, Nicholas J Vietri, Patricia L Worsham, Christopher K Cote, Todd M Kijek, Joel A Bozue
Francisella tularensis, a gram-negative facultative intracellular bacterial pathogen, is the causative agent of tularemia and able to infect many mammalian species, including humans. Because of its ability to cause a lethal infection, low infectious dose, and aerosolizable nature, F. tularensis subspecies tularensis is considered a potential biowarfare agent. Due to its in vitro efficacy, ciprofloxacin is one of the antibiotics recommended for post-exposure prophylaxis of tularemia. In order to identify therapeutics that will be efficacious against infections caused by drug resistant select-agents and to better understand the threat, we sought to characterize an existing ciprofloxacin resistant (CipR) mutant in the Schu S4 strain of F...
2017: PloS One
https://www.readbyqxmd.com/read/28328548/characterization-of-hiv-seroconverters-in-a-tdf-ftc-prep-study-hptn-067-adapt
#8
Mariya V Sivay, Maoji Li, Estelle Piwowar-Manning, Yinfeng Zhang, Sarah E Hudelson, Mark A Marzinke, Rivet K Amico, Andrew Redd, Craig W Hendrix, Peter L Anderson, Kevin Bokoch, Linda Gail-Bekker, Frits van Griensven, Sharon Mannheimer, James P Hughes, Robert Grant, Susan H Eshleman
BACKGROUND: HPTN 067/ADAPT evaluated tenofovir disoproxil fumarate/emtricitabine (TDF/FTC) pre-exposure prophylaxis (PrEP) in women (South Africa) and men who have sex with men (Thailand, US). Participants received once-weekly directly observed TDF/FTC (DOT), and were then randomized to daily, time-driven, or event-driven PrEP. This report describes characterization of 12 HIV seroconversion events in this trial. METHODS: HIV rapid testing was performed at study sites...
March 22, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28328546/temporal-patterns-and-drug-resistance-in-csf-viral-escape-among-art-experienced-hiv-1-infected-adults
#9
Shibani S Mukerji, Vikas Misra, David Lorenz, Anna M Cervantes-Arslanian, Jennifer Lyons, Spyridon Chalkias, Alysse Wurcel, Deirdre Burke, Nagagopal Venna, Susan Morgello, Igor J Koralnik, Dana Gabuzda
BACKGROUND: Cerebrospinal fluid (CSF) viral escape is an increasingly recognized clinical event among HIV-1-infected adults. We analyzed longitudinal data and drug-resistance mutations to characterize profiles of HIV-1-infected patients on antiretroviral therapy with discordant CSF and plasma HIV-1 RNA levels. METHODS: Forty-one cases of CSF escape defined as detectable CSF HIV-1 RNA when plasma levels were undetectable, or HIV-1 RNA >0.5-log higher in CSF than plasma, were identified from Boston Hospitals and National NeuroAIDS Tissue Consortium (NNTC) from 2005-2016...
March 21, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28328228/reversible-morphological-control-of-cholecystokinin-tetrapeptide-amyloid-assemblies-as-a-function-of-ph
#10
Frédéric Gobeaux, Florence Porcher, Rajeev Dattani
Most amyloid assemblies are seen as irreversible and exhibit polymorphism because their assembly is kinetically controlled and different structures are trapped during the aggregation process. However, in the specific case of peptide hormones, formation of amyloid assemblies for storage purposes has been reported. This suggests a strict control of assembly and the ability to disassemble upon hormone secretion. In the present work, we have sought to test these assertions with a short peptide, the cholecystokinin (or gastrin) tetrapeptide (CCK-4), that has been found in both gastrointestinal tract and central nervous system, and whose sequence is shared by a large number of hormones...
March 22, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28327926/genomic-characterisation-of-her2-positive-breast-cancer-and-response-to-neoadjuvant-trastuzumab-and-chemotherapy-results-from-the-acosog-z1041-alliance-trial
#11
R Lesurf, O L Griffith, M Griffith, J Hundal, L Trani, M A Watson, R Aft, M J Ellis, D Ota, V J Suman, F Meric-Bernstam, A M Leitch, J C Boughey, G Unzeitig, A U Buzdar, K K Hunt, E R Mardis
Background: HER2 ( ERBB2 ) gene amplification and its corresponding overexpression are present in 15-30% of invasive breast cancers. While HER2-targeted agents are effective treatments, resistance remains a major cause of death. The American College of Surgeons Oncology Group Z1041 trial (NCT00513292) was designed to compare the pathologic complete response (pCR) rate of distinct regimens of neoadjuvant chemotherapy and trastuzumab, but ultimately identified no difference [1]. Patients and methods: In supplement to tissues from 37 Z1041 cases, 11 similarly treated cases were obtained from a single institution study (NCT00353483)...
February 21, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28327577/metabolic-profiling-of-idh-mutation-and-malignant-progression-in-infiltrating-glioma
#12
Llewellyn E Jalbert, Adam Elkhaled, Joanna J Phillips, Evan Neill, Aurelia Williams, Jason C Crane, Marram P Olson, Annette M Molinaro, Mitchel S Berger, John Kurhanewicz, Sabrina M Ronen, Susan M Chang, Sarah J Nelson
Infiltrating low grade gliomas (LGGs) are heterogeneous in their behavior and the strategies used for clinical management are highly variable. A key factor in clinical decision-making is that patients with mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/2) oncogenes are more likely to have a favorable outcome and be sensitive to treatment. Because of their relatively long overall median survival, more aggressive treatments are typically reserved for patients that have undergone malignant progression (MP) to an anaplastic glioma or secondary glioblastoma (GBM)...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325065/low-rates-of-transmitted-drug-resistances-among-treatment-naive-hiv-1-infected-students-in-beijing-china
#13
Mingqiang Hao, Juan Wang, Ruolei Xin, Xue Li, Yinxiao Hao, Jing Chen, Jingrong Ye, Yu Wang, Xiong He, Chun Huang, Hongyan Lu
Beijing has seen a rising epidemic of HIV among students. However, little information was known about the molecular epidemiologic data among HIV-infected students. In this study, the diversity and the prevalence of TDR in pol sequences deriving from 237 HIV-infected students were analyzed. TDR mutations were found in 5 MSM among students. The overall prevalence of TDR in students was 2.1%, comprised of 1.3% to protease inhibitors and 0.8 % to non-nucleoside reverse transcriptase inhibitors. Our finding indicates a low-level prevalence of TDR mutations among students in Beijing...
March 22, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28324063/dio2-thr92ala-reduces-deiodinase-2-activity-and-serum-t3-levels-in-thyroid-deficient-patients
#14
M G Castagna, M Dentice, S Cantara, R Ambrosio, F Maino, T Porcelli, C Marzocchi, C Garbi, F Pacini, D Salvatore
Context: A significant proportion of athyreotic LT4-treated patients experience hypothyroid-like symptoms. During LT4 replacement, levels of the active hormone triiodothyronine (T3) strictly depend on type-2-deiodinase (D2)-mediated activation of LT4. The Thr92Ala polymorphism and the 258 G/A in the DIO2 gene have been associated with various clinical conditions. Objectives: To investigate the effects of DIO2 polymorphisms in thyroid hormone homeostasis. Design: We compared the pre-surgical hormonal status of thyroidectomized LT4-treated patients who had a similar TSH level, to their post-surgery status, and analyzed their DIO2 genotype in a subgroup of 102/140 (72...
February 2, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324025/clinical-and-genetic-features-of-patients-with-type-2-diabetes-and-renal-glycosuria
#15
Siqian Gong, Jiandong Guo, Xueyao Han, Meng Li, Lingli Zhou, Xiaoling Cai, Yu Zhu, Yingying Luo, Simin Zhang, Xianghai Zhou, Yumin Ma, Linong Ji
Context: A sodium glucose cotransporter 2 (SGLT2) inhibitor, which increases urinary glucose excretion, was recently reported to decrease blood glucose levels and deaths among patients with type 2 diabetes mellitus (T2DM) and established cardiovascular disease. Mutations in SLC5A2 and HNF1A are associated with renal glycosuria, but their contributions to renal glycosuria in patients with T2DM are not well understood. Objective: To assess the clinical features of T2DM patients with renal glycosuria and those with low urinary glucose excretion (LUGE) and identify variants in the coding regions of SLC5A2 and HNF1A in patients with renal glycosuria and T2DM...
January 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324001/cyp3a4-induction-by-rifampin-an-alternative-pathway-for-vitamin-d-inactivation-in-patients-with-cyp24a1-mutations
#16
Colin Patrick Hawkes, Dong Li, Hakon Hakonarson, Kevin E Meyers, Kenneth Thummel, Michael A Levine
Context: The P450 enzyme CYP24A1 is the principal inactivator of vitamin D metabolites. Biallelic loss-of-function mutations in CYP24A1 are associated with elevated serum levels of 1,25-dihydroxyvitamin D3 with consequent hypercalcemia and hypercalciuria, and represent the most common form of idiopathic infantile hypercalcemia (IIH). Current management strategies for this condition include a low calcium diet, reduced dietary vitamin D intake and limited sunlight exposure. CYP3A4 is a P450 enzyme that inactivates many drugs and xenobiotics and may represent an alternative pathway for inactivation of vitamin D metabolites...
March 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324000/trh-action-is-impaired-in-pituitaries-of-male-igsf1-deficient-mice
#17
Marc-Olivier Turgeon, Tanya L Silander, Denica Doycheva, Xiao-Hui Liao, Marc Rigden, Luisina Ongaro, Xiang Zhou, Sjoerd D Joustra, Jan M Wit, Mike G Wade, Heike Heuer, Samuel Refetoff, Daniel J Bernard
Loss-of-function mutations in the X-linked immunoglobulin superfamily, member 1 (IGSF1) gene cause central hypothyroidism. IGSF1 is a transmembrane glycoprotein of unknown function expressed in TSH-producing thyrotrope cells of the anterior pituitary gland. The protein is co-translationally cleaved, with only its C-terminal domain (CTD) being trafficked to the plasma membrane. Most intragenic IGSF1 mutations in humans map to the CTD. Here, we used CRISPR-Cas9 to introduce a loss-of-function mutation into the IGSF1-CTD in mice...
January 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323756/tdf-associated-renal-tubular-dysfunction-non-invasive-assessment-of-mitochondrial-injury
#18
Ryan Samuels, Carla Roca Bayerri, John A Sayer, D Ashley Price, Brendan Ai Payne
OBJECTIVE: To determine whether TDF-associated renal tubular dysfunction is associated with evidence of mitochondrial injury in urine. DESIGN: Single centre cross-sectional observational study of HIV positive outpatients. METHODS: Biochemistry was performed on paired serum and urine samples. Mitochondrial DNA (mtDNA) was studied by real-time PCR and long-range PCR on cellular fractions of urine. RESULTS: 48 subjects were enrolled of whom half were TDF-treated...
March 18, 2017: AIDS
https://www.readbyqxmd.com/read/28321525/dna-integrity-protecting-and-survival-promoting-activity-of-serotonergic-system-in-sturgeon-juveniles-and-sazans
#19
Arif A Mekhtiev, Turan N Allahverdiyeva, Sevda K Movsum-Zadeh
The study concerns evaluation of engagement of serotonergic system in the mechanisms of antimutagenic protection and survival under adverse conditions. It is shown that under long-term exposure to oil and industrial pollution, simultaneous sharp increase of mutations level in the erythrocytes and downregulation of serotonin-modulating anticonsolidation protein (SMAP; Mekhtiev 2000) in the livers of the sturgeon juveniles (Acipenser gueldenstaedtii persicus) is observed. Mutation level was evaluated by the micronucleus analysis and SMAP level-by the indirect ELISA-test utilizing anti-SMAP immunoglobulins...
March 20, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28320407/association-between-sensitivity-of-viral-thymidine-kinase-associated-acyclovir-resistant-herpes-simplex-virus-type-1-and-virulence
#20
Natsumi Omura, Hikaru Fujii, Tomoki Yoshikawa, Souichi Yamada, Shizuko Harada, Takuya Inagaki, Miho Shibamura, Haruko Takeyama, Masayuki Saijo
BACKGROUND: Acyclovir (ACV)-resistant (ACVr) herpes simplex virus type 1 (HSV-1) infections are concern in immunocompromised patients. Most clinical ACVr HSV-1 isolates have mutations in the viral thymidine kinase (vTK) genes. The vTK-associated ACVr HSV-1 shows reduced virulence, but the association between the level of resistance and the virulence of the vTK-associated ACVr HSV-1 is still unclear. METHODS: The virulence in mice of 5 vTK-associated ACVr HSV-1 clones with a variety of ACV sensitivities, when inoculated through intracerebral and corneal routes, was evaluated in comparison with ACV-sensitive (ACVs) parent HSV-1 TAS...
March 21, 2017: Virology Journal
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