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circadian phenotype

Nuria Farré, Ramon Farré, David Gozal
Obstructive Sleep Apnea (OSA) has emerged as a highly prevalent public health problem that imposes important mid-term and long-term consequences, namely cardiovascular, metabolic, cognitive and cancer-related alterations. OSA is characterized by increased upper airway resistance, alveolar hypoventilation, and recurrent upper airway obstruction during sleep. Recurrent collapse of the upper airway develops with sleep onset, and is associated with both intermittent hypoxemia and sleep fragmentation. The microbiome is a vast and complex polymicrobial ecosystem that coexists with the human organism, and has been identified as playing significant roles in the development of host immunological phenotypes...
March 13, 2018: Chest
Jan Cosgrave, Katharina Wulff, Philip Gehrman
PURPOSE OF REVIEW: The review is designed to give an overview of the latest developments in research exploring the relationship between sleep and psychosis, with particular attention paid to the evidence for a causal relationship between the two. RECENT FINDINGS: The most interesting avenues currently in pursuit are focused upon sleep spindle deficits which may hallmark an endophenotype; explorations of the continuum of psychotic experiences, and experimental manipulations to explore the evidence for bidirectional causality; inflammatory markers, psychosis and sleep disturbances and finally, treatment approaches for sleep in psychosis and the subsequent impact on positive experiences...
March 13, 2018: Current Opinion in Psychiatry
Todd D Rozen
OBJECTIVE: To present results from the United States Cluster Headache Survey comparing the clinical presentation of tobacco nonexposed and tobacco-exposed cluster headache patients. BACKGROUND: Cluster headache is uniquely tied to a personal history of tobacco usage/cigarette smoking and, if the individual cluster headache sufferer did not smoke, it has been shown that their parent(s) typically did and that individual had significant secondary smoke exposure as a child...
March 14, 2018: Headache
Femke M van Haalen, Elon H C van Dijk, Olaf M Dekkers, Maurice B Bizino, Greet Dijkman, Nienke R Biermasz, Camiel J F Boon, Alberto M Pereira
Objective: Central serous chorioretinopathy (CSC), a specific form of macular degeneration, has been reported as presenting manifestation of Cushing's syndrome. Furthermore, CSC has been associated with both exogenous hypercortisolism and endogenous Cushing's syndrome. It is important to know whether CSC patients should be screened for Cushing's syndrome. Although hypothalamic-pituitary-adrenal (HPA) axis hyperactivity in CSC has been suggested, no detailed evaluation of the HPA axis has been performed in a large cohort of CSC patients...
2018: Frontiers in Endocrinology
Ágnes Molnár, Attila Patócs, István Likó, Gábor Nyírő, Károly Rácz, Miklós Tóth, Beatrix Sármán
BACKGROUND: Glucocorticoid resistance is a rare, sporadic or familial condition caused by mutation of the gene encoding the glucocorticoid receptor (GR). Clinically it is characterized by symptoms developed due to local, tissue-specific, or generalized partial insensitivity to glucocorticoids. CASE PRESENTATION: A 31-year-old woman was evaluated because of infertility at the Endocrine Unit of the 2nd Department of Medicine, Semmelweis University. During her laboratory investigations, elevated serum and salivary cortisol were observed which failed to be suppressed after administration of 1 mg dexamethasone...
March 6, 2018: BMC Medical Genetics
Georges Pétavy, Brigitte Moreteau, Jean R David, Patricia Gibert
Thoracic and abdominal pigmentation were measured in Drosophila melanogaster under a cold circadian stress (8-25 °C) and a heat one (18-33 °C) and compared to the phenotypes observed under similar but constant temperatures of 17 or 25 °C respectively. An isofemale line design permitted to submit each line (full sibs) to the four thermal regimes. Under cold stress, the pigmentation was similar to the value observed at constant 25 °C, suggesting a kind of functional dominance of the high temperature phase...
February 2018: Journal of Thermal Biology
Gaia Bazzi, Stefano Podofillini, Emanuele Gatti, Luca Gianfranceschi, Jacopo G Cecere, Fernando Spina, Nicola Saino, Diego Rubolini
The timing of major life-history events, such as migration and moult, is set by endogenous circadian and circannual clocks, that have been well characterized at the molecular level. Conversely, the genetic sources of variation in phenology and in other behavioral traits have been sparsely addressed. It has been proposed that inter-individual variability in the timing of seasonal events may arise from allelic polymorphism at phenological candidate genes involved in the signaling cascade of the endogenous clocks...
October 2017: Current Zoology
C M McQueen, E E Schmitt, T R Sarkar, J Elswood, R P Metz, D Earnest, M Rijnkels, W W Porter
The molecular clock plays key roles in daily physiological functions, development, and cancer. Period 2 (PER2) is a repressive element, which inhibits transcription activated by positive clock elements, resulting in diurnal cycling of genes. However, there are gaps in our understanding of the role of the clock in normal development outside of its time keeping function. Here we show that PER2 has a non-circadian function that is critical to mammary gland development. Virgin Per2 deficient mice, Per2 -/- , have underdeveloped glands containing fewer bifurcations and terminal ducts...
February 28, 2018: Development
Jennifer Gile, Benjamin Scott, Tobias Eckle
OBJECTIVES: Delirium occurs in approximately 30% of critically ill patients, and the risk of dying during admission doubles in those patients. Molecular mechanisms causing delirium are largely unknown. However, critical illness and the ICU environment consistently disrupt circadian rhythms, and circadian disruptions are strongly associated with delirium. Exposure to benzodiazepines and constant light are suspected risk factors for the development of delirium. Thus, we tested the functional role of the circadian rhythm protein Period 2 (PER2) in different mouse models resembling delirium...
February 27, 2018: Critical Care Medicine
Kelly C Allison, Namni Goel
Timing of eating is recognized as a significant contributor to body weight regulation. Disruption of sleep-wake cycles from a predominantly diurnal (daytime) to a delayed (evening) lifestyle leads to altered circadian rhythms and metabolic dysfunction. This article reviews current evidence for timed and delayed eating in individuals of normal weight and those with overweight or obesity: some findings indicate a benefit of eating earlier in the daytime on weight and/or metabolic outcomes, although the findings have not been uniformly consistent, and more rigorous and longer-duration studies are needed...
February 24, 2018: Physiology & Behavior
Ryan S Wible, Chidambaram Ramanathan, Carrie Hayes Sutter, Kristin M Olesen, Thomas W Kensler, Andrew C Liu, Thomas R Sutter
Diurnal oscillation of intracellular redox potential is known to couple metabolism with the circadian clock, yet the responsible mechanisms are not well understood. We show here that chemical activation of NRF2 modifies circadian gene expression and rhythmicity, with phenotypes similar to genetic NRF2 activation. Loss of Nrf2 function in mouse fibroblasts, hepatocytes and liver also altered circadian rhythms, suggesting that NRF2 stoichiometry and/or timing of expression are important to timekeeping in some cells...
February 26, 2018: ELife
S Y Christin Chong, Lijuan Xin, Louis J Ptáček, Ying-Hui Fu
Sleep is fundamental to the survival of humans. However, knowledge regarding the role of sleep and its regulation is poorly understood. Genetics in flies, mice, and humans has led to a detailed understanding of some aspects of circadian regulation. Sleep homeostasis (the effect of increasing periods of wakefulness on our sleep propensity) is largely not understood. Sleep homeostasis is distinct from, but also linked to, the circadian clock. It is only in the last two decades that our understanding of some sleep disorders has been revealed...
2018: Handbook of Clinical Neurology
Dan Peng, Yueqiao Jiang, Xuanming Liu, Bo Zhou
Sapium sebiferum (L.) Roxb [S. sebiferum L.] is not only one of the most important economic woody oil trees, but is also a significant traditional herbal medicine in China. The CONSTANS (CO) gene is a key regulator of the long day-dependent flowering pathway in Arabidopsis and other plants. To gain insight into the role of CO in woody oil trees, SsCO from S. sebiferum L. was isolated and characterized in this study. The corresponding SsCO protein, with 340 amino acid residues, included two putative zinc finger motifs B-Box1 and B-Box2 in the N-terminal region and a conserved CCT domain in the C-terminal region...
February 18, 2018: Gene
Matthew Lowe, Jacob Lage, Ellen Paatela, Dane Munson, Reilly Hostager, Ce Yuan, Nobuko Katoku-Kikyo, Mercedes Ruiz-Estevez, Yoko Asakura, James Staats, Mulan Qahar, Michaela Lohman, Atsushi Asakura, Nobuaki Kikyo
Circadian rhythms regulate cell proliferation and differentiation; however, little is known about their roles in myogenic differentiation. Our synchronized differentiation studies demonstrate that myoblast proliferation and subsequent myotube formation by cell fusion occur in circadian manners. We found that one of the core regulators of circadian rhythms, Cry2, but not Cry1, is critical for the circadian patterns of these two critical steps in myogenic differentiation. This is achieved through the specific interaction between Cry2 and Bclaf1, which stabilizes mRNAs encoding cyclin D1, a G1/S phase transition regulator, and Tmem176b, a transmembrane regulator for myogenic cell fusion...
February 20, 2018: Cell Reports
Sam-Moon Kim, Nichole Neuendorff, Robert C Alaniz, Yuxiang Sun, Robert S Chapkin, David J Earnest
Based on genetic models with mutation or deletion of core clock genes, circadian disruption has been implicated in the pathophysiology of metabolic disorders. Thus, we examined whether circadian desynchronization in response to shift work-type schedules is sufficient to compromise metabolic homeostasis and whether inflammatory mediators provide a key link in the mechanism by which alterations of circadian timekeeping contribute to diet-induced metabolic dysregulation. In high-fat diet (HFD)-fed mice, exposure to chronic shifts of the light-dark cycle (12 h advance every 5 d): 1) disrupts photoentrainment of circadian behavior and modulates the period of spleen and macrophage clock gene rhythms; 2) potentiates HFD-induced adipose tissue infiltration and activation of proinflammatory M1 macrophages; 3) amplifies macrophage proinflammatory cytokine expression in adipose tissue and bone marrow-derived macrophages; and 4) exacerbates diet-induced increases in body weight, insulin resistance, and glucose intolerance in the absence of changes in total daily food intake...
February 5, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Jarrod Shilts, Guanhua Chen, Jacob J Hughey
The ubiquitous daily rhythms in mammalian physiology are guided by progression of the circadian clock. In mice, systemic disruption of the clock can promote tumor growth. In vitro, multiple oncogenes can disrupt the clock. However, due to the difficulties of studying circadian rhythms in solid tissues in humans, whether the clock is disrupted within human tumors has remained unknown. We sought to determine the state of the circadian clock in human cancer using publicly available transcriptome data. We developed a method, called the clock correlation distance (CCD), to infer circadian clock progression in a group of samples based on the co-expression of 12 clock genes...
2018: PeerJ
Zheng Li, Katia Bonaldi, Francisco Uribe, Jose L Pruneda-Paz
The circadian clock drives daily rhythms of many plant physiological responses, providing a competitive advantage that improves plant fitness and survival rates [1-5]. Whereas multiple environmental cues are predicted to regulate the plant clock function, most studies focused on understanding the effects of light and temperature [5-8]. Increasing evidence indicates a significant role of plant-pathogen interactions on clock regulation [9, 10], but the underlying mechanisms remain elusive. In Arabidopsis, the clock function largely relies on a transcriptional feedback loop between morning (CCA1 and LHY)- and evening (TOC1)-expressed transcription factors [6-8]...
January 19, 2018: Current Biology: CB
Yasukazu Nakahata, Shiori Yasukawa, Fiqri Dizar Khaidizar, Shigeki Shimba, Takaaki Matsui, Yasumasa Bessho
Bmal1 is a core circadian clock gene. Bmal1-/- mice show disruption of the clock and premature aging phenotypes with a short lifespan. However, little is known whether disruption of Bmal1 leads to premature aging at cellular level. Here, we established primary mouse embryonic fibroblast (MEF) cells derived from Bmal1-/- mice and investigated its effects on cellular senescence. Unexpectedly, Bmal1-/- primary MEFs that showed disrupted circadian oscillation underwent neither premature replicative nor stress-induced cellular senescence...
January 26, 2018: Chronobiology International
Lin Chang, Wenhao Xiong, Xiangjie Zhao, Yanbo Fan, Yanhong Guo, Minerva Garcia-Barrio, Jifeng Zhang, Zhisheng Jiang, Jiandie D Lin, Y Eugene Chen
Background -The perivascular adipose tissue (PVAT), surrounding vessels, constitutes a distinct functional integral layer of the vasculature required to preserve vascular tone under physiological conditions. However, there is little information regarding the relationship between PVAT and blood pressure regulation, including its potential contributions to circadian blood pressure variation. Methods -Using unique brown adipocyte-specific aryl hydrocarbon receptor nuclear translocator-like protein 1 (Bmal1) and angiotensinogen (Agt) knock out mice we determined the vasoactivity of homogenized PVAT in aortic rings and how brown-adipocyte peripheral expression of Bmal1 and Agt in PVAT regulate the amplitude of diurnal change in blood pressure in mice...
January 25, 2018: Circulation
Xiaoying Zhou, Bin Wang, Jillian M Emerson, Carol S Ringelberg, Scott A Gerber, Jennifer J Loros, Jay C Dunlap
Circadian clocks are ubiquitous in eukaryotic organisms where they are used to anticipate regularly occurring diurnal and seasonal environmental changes. Nevertheless, little is known regarding pathways connecting the core clock to its output pathways. Here, we report that the HAD family phosphatase CSP-6 is required for overt circadian clock output but not for the core oscillation. The loss of function Δcsp-6 deletion mutant is overtly arrhythmic on race tubes under free running conditions; however, reporter assays confirm that the FREQUENCY-WHITE COLLAR COMPLEX core circadian oscillator is functional, indicating a discrete block between oscillator and output...
January 19, 2018: PLoS Genetics
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