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Sleep genetics

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https://www.readbyqxmd.com/read/29244233/inadequate-brain-glycogen-or-sleep-increases-spreading-depression-susceptibility
#1
Kivilcim Kilic, Hulya Karatas, Buket Donmez-Demir, Emine Eren-Kocak, Yasemin Gursoy-Ozdemir, Alp Can, Jean-Marie Petit, Pierre J Magistretti, Turgay Dalkara
OBJECTIVE: Glycogen in astrocyte endfeet contributes to maintenance of low extracellular glutamate and K+ concentrations around synapses. Sleep deprivation (SD), a common migraine trigger induces transcriptional changes in astrocytes reducing glycogen breakdown. We hypothesize that when glycogen utilization cannot match synaptic energy demand, extracellular K+ can rise to levels that activate neuronal pannexin-1 channels and downstream inflammatory pathway, which might be one of the mechanisms initiating migraine headaches...
December 15, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29240764/selection-for-long-and-short-sleep-duration-in-drosophila-melanogaster-reveals-the-complex-genetic-network-underlying-natural-variation-in-sleep
#2
Susan T Harbison, Yazmin L Serrano Negron, Nancy F Hansen, Amanda S Lobell
Why do some individuals need more sleep than others? Forward mutagenesis screens in flies using engineered mutations have established a clear genetic component to sleep duration, revealing mutants that convey very long or short sleep. Whether such extreme long or short sleep could exist in natural populations was unknown. We applied artificial selection for high and low night sleep duration to an outbred population of Drosophila melanogaster for 13 generations. At the end of the selection procedure, night sleep duration diverged by 9...
December 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29240646/genetic-and-environmental-contributions-to-sleep-quality-and-low-back-pain-a-population-based-twin-study
#3
Marina B Pinheiro, Jose J Morosoli, Manuela L Ferreira, Juan J Madrid-Valero, Kathryn Refshauge, Paulo H Ferreira, Juan R Ordoñana
OBJECTIVE: To estimate the extent to which the co-occurrence of poor sleep quality and low back pain is due to the same genetic and/or environmental risk factors or due to a causal association. METHODS: Cross-sectional data on sleep quality (Pittsburgh Sleep Quality index) and low back pain were collected in a population-based sample of adult twins (n=2,134) registered with the Murcia Twin Registry. Bivariate analysis and structural equation modelling were used...
December 13, 2017: Psychosomatic Medicine
https://www.readbyqxmd.com/read/29237658/emergency-salpingectomy-for-ruptured-ectopic-pregnancy-in-patient-with-melnick-needles-syndrome-a-rare-otopalatodigital-syndrome
#4
Mark Zachary Johnson, Cormac Francis Mullins, Declan Keane, Ingrid Browne
Melnick-Needles syndrome (M-NS) is a rare genetic disorder which primarily affects skeletal developments. M-NS may also affect the cardiorespiratory and renal systems. A 35 kg patient presented complaining of abdominal pain. Following a positive pregnancy test and ultrasound examination, she was diagnosed with a ruptured ectopic pregnancy. She had a significant background history of M-NS, obstructive sleep apnoea (with narrow gauge tracheostomy in situ), obstructive lung disease and scoliosis. She received fluid resuscitation, and the case was managed using an open salpingectomy and clot evacuation under combined spinal/epidural anaesthesia...
December 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29237331/autism-spectrum-disorder-consensus-guidelines-on-assessment-treatment-and-research-from-the-british-association-for-psychopharmacology
#5
Oliver D Howes, Maria Rogdaki, James L Findon, Robert H Wichers, Tony Charman, Bryan H King, Eva Loth, Gráinne M McAlonan, James T McCracken, Jeremy R Parr, Carol Povey, Paramala Santosh, Simon Wallace, Emily Simonoff, Declan G Murphy
An expert review of the aetiology, assessment, and treatment of autism spectrum disorder, and recommendations for diagnosis, management and service provision was coordinated by the British Association for Psychopharmacology, and evidence graded. The aetiology of autism spectrum disorder involves genetic and environmental contributions, and implicates a number of brain systems, in particular the gamma-aminobutyric acid, serotonergic and glutamatergic systems. The presentation of autism spectrum disorder varies widely and co-occurring health problems (in particular epilepsy, sleep disorders, anxiety, depression, attention deficit/hyperactivity disorder and irritability) are common...
December 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/29236274/outcomes-of-adenotonsillectomy-in-severe-pediatric-obstructive-sleep-apnea
#6
Karim El-Kersh, Rodrigo Cavallazzi, Egambaram Senthilvel
We conducted a retrospective chart review to examine the efficacy of adenotonsillectomy for the treatment of severe obstructive sleep apnea (OSA) in children. Our study population was made up of 85 patients-58 boys and 27 girls, aged 1 to 17 years (mean: 6.9 ± 4.4)-with severe OSA who had undergone adenotonsillectomy and pre- and postoperative attended polysomnography (PSG) over a 4-year period. Severe OSA was defined as an apnea-hypopnea index (AHI) of >10 events per hour of sleep. Patients who had an underlying genetic or craniofacial anomaly were excluded...
December 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/29233612/association-between-long-sleep-duration-and-increased-risk-of-obesity-and-type-2-diabetes-a-review-of-possible-mechanisms
#7
REVIEW
Xiao Tan, Colin D Chapman, Jonathan Cedernaes, Christian Benedict
For the last two decades research has revealed an alarming association between short sleep duration and metabolic disorders. In tandem, the hormonal, behavioral, and genetic mechanisms underlying this relationship have been extensively investigated and reviewed. However, emerging evidence is revealing that excessive sleep duration has remarkably similar deleterious effects. Unfortunately, to date there has been little attention to what drives this connection. This narrative review therefore aims to summarize existing epidemiological findings, experimental work, and most importantly putative molecular and behavioral mechanisms connecting excessive sleep duration with both obesity and type 2 diabetes mellitus...
November 20, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29231011/-research-progress-of-the-relationship-between-sunds-and-osahs
#8
REVIEW
Y D Wu, L Y Zhang, J D Cheng
Sudden unexplained nocturnal death syndrome (SUNDS) is always a difficulty in forensic medicine researches. Although the development of molecular genetics promotes the etiologic study of SUNDS, the pathogenesis of most such cases is still unclear. Sleep apnea syndrome (SAS) is one of the common forms of sleep disorders, and obstructive sleep apnea hypopnea syndrome (OSAHS) is the most common. In recent years, some domestic and international researches show that OSAHS is related to the development of cardiovascular disease, which may cause cardiac arrhythmia, even sudden death...
February 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29229660/rationale-and-design-of-geneius-a-prospective-observational-study-on-the-genetic-and-environmental-determinants-of-body-mass-index-evolution-in-canadian-undergraduate-students
#9
Rita E Morassut, Christine Langlois, Akram Alyass, Adeola F Ishola, Fereshteh T Yazdi, Alexandra J Mayhew, Hudson Reddon, James MacKillop, Marie Pigeyre, David Meyre
INTRODUCTION: Obesity is a global epidemic and is a risk factor for developing other comorbidities. Young adulthood is a critical period for body weight change and establishing healthy lifestyle behaviours. The 'Freshman 15' suggests that undergraduate students gain 15 lbs (6.8 kg) during their first year of university, although evidence estimates a more modest weight gain of approximately 3-5 lbs (1.4-2.3 kg). Previous studies have only investigated weight change in the first year and do not study potential risk factors...
December 10, 2017: BMJ Open
https://www.readbyqxmd.com/read/29228366/genotype-influences-day-to-day-variability-in-sleep-in-drosophila-melanogaster
#10
Katherine J Wu, Shailesh Kumar, Yazmin L Serrano Negron, Susan T Harbison
Patterns of sleep often vary among individuals. But sleep and activity may also vary within an individual, fluctuating in pattern across time. One possibility is that these daily fluctuations in sleep are caused by the underlying genotype of the individual. However, differences attributable to genetic causes are difficult to distinguish from environmental factors in outbred populations such as humans. We therefore employed Drosophila as a model of intra-individual variability in sleep using previously collected sleep and activity data from the Drosophila Genetic Reference Panel, a collection of wild-derived inbred lines...
December 8, 2017: Sleep
https://www.readbyqxmd.com/read/29225025/neuropeptide-y-regulates-sleep-by-modulating-noradrenergic-signaling
#11
Chanpreet Singh, Jason Rihel, David A Prober
Sleep is an essential and evolutionarily conserved behavioral state whose regulation remains poorly understood. To identify genes that regulate vertebrate sleep, we recently performed a genetic screen in zebrafish, and here we report the identification of neuropeptide Y (NPY) as both necessary for normal daytime sleep duration and sufficient to promote sleep. We show that overexpression of NPY increases sleep, whereas mutation of npy or ablation of npy-expressing neurons decreases sleep. By analyzing sleep architecture, we show that NPY regulates sleep primarily by modulating the length of wake bouts...
December 5, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29216834/inventory-of-real-world-data-sources-in-parkinson-s-disease
#12
Audrey Tanguy, Linus Jönsson, Lianna Ishihara
BACKGROUND: Real world data have an important role to play in the evaluation of epidemiology and burden of disease; and in assisting health-care decision-makers, especially related to coverage and payment decisions. However, there is currently no overview of the existing longitudinal real world data sources in Parkinson's disease (PD) in the USA. Such an assessment can be very helpful, to support a future effort to harmonize real world data collection and use the available resources in an optimal way...
December 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29210635/potential-drug-targets-in-the-pentose-phosphate-pathway-of-trypanosomatids
#13
Ines Loureiro, Joana Faria, Nuno Santarem, Terry K Smith, Joana Tavares, Anabela Cordeiro-da-Silva
The trypanosomatids, Trypanosoma brucei, Trypanosoma cruzi and Leishmania spp, are causative agents of important human diseases such African sleeping sickness, Chagas' disease and Leishmaniasis, respectively. The high impact of these diseases on human health and economy worldwide, the unsatisfactory available chemotherapeutic options and the absence of human effective vaccines, strongly justifies the search for new drugs. The pentose phosphate pathway has been proposed to be a viable strategy to defeat several infectious diseases, including those from trypanosomatids, as it includes an oxidative branch, important in the maintenance of cell redox homeostasis, and a non-oxidative branch in which ribose 5-phosphate and erythrose 4-phosphate, precursors of nucleic acids and aromatic amino acids, are produced...
December 5, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29209391/korean-brain-aging-study-for-the-early-diagnosis-and-prediction-of-alzheimer-s-disease-methodology-and-baseline-sample-characteristics
#14
Min Soo Byun, Dahyun Yi, Jun Ho Lee, Young Min Choe, Bo Kyung Sohn, Jun-Young Lee, Hyo Jung Choi, Hyewon Baek, Yu Kyeong Kim, Yun-Sang Lee, Chul-Ho Sohn, Inhee Mook-Jung, Murim Choi, Yu Jin Lee, Dong Woo Lee, Seung-Ho Ryu, Shin Gyeom Kim, Jee Wook Kim, Jong Inn Woo, Dong Young Lee
Objective: The Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's disease (KBASE) aimed to recruit 650 individuals, aged from 20 to 90 years, to search for new biomarkers of Alzheimer's disease (AD) and to investigate how multi-faceted lifetime experiences and bodily changes contribute to the brain changes or brain pathologies related to the AD process. Methods: All participants received comprehensive clinical and neuropsychological evaluations, multi-modal brain imaging, including magnetic resonance imaging, magnetic resonance angiography, [11C]Pittsburgh compound B-positron emission tomography (PET), and [18F]fluorodeoxyglucose-PET, blood and genetic marker analyses at baseline, and a subset of participants underwent actigraph monitoring and completed a sleep diary...
November 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/29209388/a-genome-wide-association-study-identifies-utrn-gene-polymorphism-for-restless-legs-syndrome-in-a-korean-population
#15
Chul-Hyun Cho, Ji-Hye Choi, Seung-Gul Kang, Ho-Kyoung Yoon, Young-Min Park, Joung-Ho Moon, Ki-Young Jung, Jin-Kyu Han, Hong-Bum Shin, Hyun Ji Noh, Yong Seo Koo, Leen Kim, Hyun Goo Woo, Heon-Jeong Lee
Objective: Restless legs syndrome (RLS) is a highly heritable and common neurological sensorimotor disease disturbing sleep. The objective of study was to investigate significant gene for RLS by performing GWA and replication study in a Korean population. Methods: We performed a GWA study for RLS symptom group (n=325) and non-RLS group (n=2,603) from the Korea Genome Epidemiology Study. We subsequently performed a replication study in RLS and normal controls (227 RLS and 229 controls) to confirm the present GWA study findings as well as previous GWA study results...
November 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/29206811/neuronal-mechanisms-for-sleep-wake-regulation-and-modulatory-drive
#16
REVIEW
Ada Eban-Rothschild, Lior Appelbaum, Luis de Lecea
Humans have been fascinated by sleep for millennia. After almost a century of scientific interrogation, significant progress has been made in understanding the neuronal regulation and functions of sleep. The application of new methods in neuroscience that enable the analysis of genetically defined neuronal circuits with unprecedented specificity and precision has been paramount in this endeavor. In this review, we discuss electrophysiological and behavioral features of sleep/wake states and the principal neuronal populations involved in their regulation...
December 5, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29206050/association-between-short-and-long-sleep-durations-and-cardiovascular-outcomes-a-systematic-review-and-meta-analysis
#17
Chayakrit Krittanawong, Anusith Tunhasiriwet, Zhen Wang, HongJu Zhang, Ann M Farrell, Sakkarin Chirapongsathorn, Tao Sun, Takeshi Kitai, Edgar Argulian
BACKGROUND: A shorter sleep duration has been identified as a risk factor for cardiovascular diseases and increased mortality. It has been hypothesized that a short sleep duration may be linked to changes in ghrelin and leptin production, leading to an alteration of stress hormone production. Here, we conducted a systematic review and meta-analysis to investigate the potential relationship between a sleep duration and cardiovascular disease mortality. METHODS: We conducted a comprehensive search of Ovid Medline In-Process and other non-indexed citations, Ovid MEDLINE, Ovid Embase, Ovid Cochrane Central Register of Controlled Trials, and Scopus from database inception to March 2017...
December 1, 2017: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/29205420/ca2-dependent-hyperpolarization-pathways-in-sleep-homeostasis-and-mental-disorders
#18
REVIEW
Shoi Shi, Hiroki R Ueda
Although we are beginning to understand the neuronal and biochemical nature of sleep regulation, questions remain about how sleep is homeostatically regulated. Beyond its importance in basic physiology, understanding sleep may also shed light on psychiatric and neurodevelopmental disorders. Recent genetic studies in mammals revealed several non-secretory proteins that determine sleep duration. Interestingly, genes identified in these studies are closely related to psychiatric and neurodevelopmental disorders, suggesting that the sleep-wake cycle shares some common mechanisms with these disorders...
December 4, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29196479/sleep-treatment-outcome-predictors-stop-pilot-study-a-protocol-for-a-randomised-controlled-trial-examining-predictors-of-change-of-insomnia-symptoms-and-associated-traits-following-cognitive-behavioural-therapy-for-insomnia-in-an-unselected-sample
#19
Dan Denis, Thalia C Eley, Fruhling Rijsdijk, Helena M S Zavos, Robert Keers, Colin A Espie, Annemarie I Luik, Isabella Badini, Sarah Derveeuw, Alvin Romero, John Hodsoll, Alice M Gregory
INTRODUCTION: Cognitive-behavioural therapy for insomnia (CBT-I) leads to insomnia symptom improvements in a substantial proportion of patients. However, not everyone responds well to this treatment, and it is unclear what determines individual differences in response. The broader aim of this work is to examine to what extent response to CBT-I is due to genetic and environmental factors. The purpose of this pilot study is to examine feasibility of a design to test hypotheses focusing on an unselected sample, that is, without selection on insomnia complaints, in order to plan a larger behavioural genetics study where most participants will likely not have an insomnia disorder...
December 1, 2017: BMJ Open
https://www.readbyqxmd.com/read/29194408/exposure-to-night-time-traffic-noise-melatonin-regulating-gene-variants-and-change-in-glycemia-in-adults
#20
Ikenna C Eze, Medea Imboden, Maria Foraster, Emmanuel Schaffner, Ashish Kumar, Danielle Vienneau, Harris Héritier, Franziska Rudzik, Laurie Thiesse, Reto Pieren, Arnold von Eckardstein, Christian Schindler, Mark Brink, Jean-Marc Wunderli, Christian Cajochen, Martin Röösli, Nicole Probst-Hensch
Traffic noise has been linked to diabetes, with limited understanding of its mechanisms. We hypothesize that night-time road traffic noise (RTN) may impair glucose homeostasis through circadian rhythm disturbances. We prospectively investigated the relationship between residential night-time RTN and subsequent eight-year change in glycosylated hemoglobin (ΔHbA1c) in 3350 participants of the Swiss Cohort Study on Air Pollution and Lung and Heart Diseases in Adults (SAPALDIA), adjusting for diabetes risk factors and air pollution levels...
December 1, 2017: International Journal of Environmental Research and Public Health
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