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Sleep genetics

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https://www.readbyqxmd.com/read/28731362/greater-cognitive-deficits-with-sleep-disordered-breathing-among-individuals-with-genetic-susceptibility-to-alzheimer-s-disease-the-multi-ethnic-study-of-atherosclerosis
#1
Dayna A Johnson, Jacqueline Lane, Rui Wang, Michelle Reid, Ina Djonlagic, Annette L Fitzpatrick, Stephen R Rapp, Luenda E Charles, Ruth O'Hara, Richa Saxena, Susan Redline
RATIONALE: There are conflicting findings regarding the link between sleep apnea and cognitive dysfunction. OBJECTIVE: Investigate associations between indicators of sleep-disordered breathing (SDB) and cognitive function in the Multi-Ethnic Study of Atherosclerosis and assess effect modification by the apolipoprotein ε-4 (APOE-ε4) allele. METHODS: A diverse population (N=1,752) underwent Type 2 in-home polysomnography, which included measurement of % sleep time <90% oxyhemoglobin saturation (%Sat<90%) and apnea-hypopnea index (AHI)...
July 21, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28730970/healthy-diet-and-reduction-of-chronic-disease-risks-of-night-shift-workers
#2
Giovanni M Ferri, Domenica Cavone, Graziana Intranuovo, Linda Macinagrossa
BACKGROUND: The large increase in epidemiological studies on night shift work is due to the important effects of night shift work on workers' health and psychophysical wellbeing. The short-term effects-insomnia, difficulties in managing work and private life, lower work performance, and more work and extra-work accidents-are easily studied. However, there are several long-term effects that are difficult to study because of the need for detailed exposure assessment and the long latency periods of these diseases...
July 20, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28724549/identification-of-new-tumor-suppressor-genes-in-triple-negative-breast-cancer
#3
Roberto Rangel, Liliana Guzman-Rojas, Takahiro Kodama, Michiko Kodama, Justin Y Newberg, Neal G Copeland, Nancy A Jenkins
Although genomic sequencing has provided a better understating of the genetic landmarks in triple-negative breast cancer (TNBC), functional validation of candidate cancer genes (CCG) remains unsolved. In this study, we used a transposon mutagenesis strategy based on a two-step Sleeping Beauty (SB) forward genetic screen to identify and validate new tumor suppressors (TS) in this disease. We generated 120 siRNAs targeting 40 SB-identified candidate breast cancer TS genes and used them to downregulate expression of these genes in four human TNBC cell lines...
July 19, 2017: Cancer Research
https://www.readbyqxmd.com/read/28720848/the-natural-disc1-deletion-present-in-several-inbred-mouse-strains-does-not-affect-sleep
#4
Lars Dittrich, Alessandro Petese, Walker S Jackson
The gene Disrupted in Schizophrenia-1 (DISC1) is linked to a range of psychiatric disorders. Two recent transgenic studies suggest DISC1 is also involved in homeostatic sleep regulation. Several strains of inbred mice commonly used for genome manipulation experiments, including several Swiss and likely all 129 substrains, carry a natural deletion mutation of Disc1. This constitutes a potential confound for studying sleep in genetically modified mice. Since disturbed sleep can also influence psychiatric and neurodegenerative disease models, this putative confound might affect a wide range of studies in several fields...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28720102/environmental-lifestyle-factors-in-the-pathogenesis-and-prevention-of-type-2-diabetes
#5
REVIEW
Hubert Kolb, Stephan Martin
BACKGROUND: Environmental and lifestyle changes, in addition to the ageing of populations, are generally believed to account for the rapid global increase in type 2 diabetes prevalence and incidence in recent decades. DISCUSSION: In this review, we present a comprehensive overview of factors contributing to diabetes risk, including aspects of diet quality and quantity, little physical activity, increased monitor viewing time or sitting in general, exposure to noise or fine dust, short or disturbed sleep, smoking, stress and depression, and a low socioeconomic status...
July 19, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28710215/a-study-protocol-for-an-observational-cohort-investigating-cognitive-outcomes-and-wellness-in-survivors-of-critical-illness-the-cogwell-study
#6
M Elizabeth Wilcox, Andrew S Lim, Mary P McAndrews, Richard A Wennberg, Ruxandra L Pinto, Sandra E Black, Karolina D Walczak, Jan O Friedrich, Michael S Taglione, Gordon D Rubenfeld
INTRODUCTION: Up to 9 out of 10 intensive care unit (ICU) survivors will suffer some degree of cognitive impairment at hospital discharge and approximately half will have decrements that persist for years. The mechanisms for this newly acquired brain injury are poorly understood. The purpose of this study is to describe the prevalence of sleep abnormalities and their association with cognitive impairment, examine a well-known genetic risk factor for dementia (Apolipoprotein E ε4) that may allow for genetic risk stratification of ICU survivors at greatest risk of cognitive impairment and determine if electroencephalography (EEG) is an independent predictor of long-term cognitive impairment and possibly a candidate intermediate end point for future clinical trials...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28709004/mapping-the-neural-substrates-of-behavior
#7
Alice A Robie, Jonathan Hirokawa, Austin W Edwards, Lowell A Umayam, Allen Lee, Mary L Phillips, Gwyneth M Card, Wyatt Korff, Gerald M Rubin, Julie H Simpson, Michael B Reiser, Kristin Branson
Assigning behavioral functions to neural structures has long been a central goal in neuroscience and is a necessary first step toward a circuit-level understanding of how the brain generates behavior. Here, we map the neural substrates of locomotion and social behaviors for Drosophila melanogaster using automated machine-vision and machine-learning techniques. From videos of 400,000 flies, we quantified the behavioral effects of activating 2,204 genetically targeted populations of neurons. We combined a novel quantification of anatomy with our behavioral analysis to create brain-behavior correlation maps, which are shared as browsable web pages and interactive software...
July 13, 2017: Cell
https://www.readbyqxmd.com/read/28692828/sleep-bruxism-and-related-risk-factors-in-adults-a-systematic-literature-review
#8
REVIEW
Tommaso Castroflorio, Andrea Bargellini, Gabriele Rossini, Giovanni Cugliari, Andrea Deregibus
OBJECTIVE: The aim of this article was to systematically review the literature to assess the relationship between risk factors and sleep bruxism (SB) in adults (age ≥18 years). DESIGN: A systematic search of the following databases was carried out: PubMed, Embase, Scopus, Cochrane Oral Health Group's Trial Register and Cochrane Register of Controlled Trials, Web of Science, LILACs and SciELO. Nine out of the 4583 initially identified articles were selected. This review was conducted according to the guidelines from the Cochrane Handbook for Systematic Reviews of Interventions, with reporting in agreement to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines...
July 5, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28683344/age-related-sleep-nocturnal-tonic-and-tonic-clonic-seizure-clusters-are-underdiagnosed-in-patients-with-dravet-syndrome
#9
Emma Losito, Matthieu Kuchenbuch, Nicole Chemaly, Jacques Laschet, Catherine Chiron, Anna Kaminska, Rima Nabbout
OBJECTIVES: To describe the semiology and EEG characteristics of the age-related pattern of sleep/nocturnal (S/N) seizures in patients with Dravet Syndrome (DS). METHODS: We retrospectively analysed the clinical and EEG data of DS patients followed at our reference centre for Rare Epilepsies. We included patients aged two years and older who fulfilled clinical and EEG criteria of DS (ILAE 1989). Genetic testing for SCN1A was done in all, followed by PCDH19 if this was negative...
July 3, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28682878/the-involvement-of-potassium-channel-ork1-in-short-term-memory-and-sleep-in-drosophila
#10
Xiaoyan Zhang, Yabin Zheng, Qingguo Ren, Hong Zhou
BACKGROUND: The sleep and cognitive dysfunction are common in major depressive disorders (MDDs). Recently, the 2-pore domain potassium channel twik-related K(+) channel 1 (TREK-1) has been identified to be closely related to the etiology of MDD. However, whether TREK-1 is involved in the regulation of sleep and cognition is still unknown. METHODS: The present study tried to dissect the role of outwardly rectifying K+ channel-1 (ORK1) (TREK-1 homolog in Drosophila) in sleep and cognition in Drosophila...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28676332/circulating-exosomes-in-obstructive-sleep-apnea-as-phenotypic-biomarkers-and-mechanistic-messengers-of-end-organ-morbidity
#11
REVIEW
Abdelnaby Khalyfa, Leila Kheirandish-Gozal, David Gozal
Obstructive sleep apnea (OSA), the most severe form of sleep disordered breathing, is characterized by intermittent hypoxia during sleep (IH), sleep fragmentation, and episodic hypercapnia. OSA is associated with increased risk for morbidity and mortality affecting cardiovascular, metabolic, and neurocognitive systems, and more recently with non-alcoholic fatty liver disease (NAFLD) and cancer-related deaths. Substantial variability in OSA outcomes suggests that genetically-determined and environmental and lifestyle factors affect the phenotypic susceptibility to OSA...
July 1, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28675258/narcolepsy-cataplexy-and-psychosis-a-case-study
#12
F Canellas-Dols, C Delgado, C Arango-Lopez, R Peraita-Adrados
AIMS: To report a challenging patient a girl who developed narcolepsyy with cataplexy (NT1) and a psychosis during adolescence. To discuss diagnostic and therapeutic challenges of the comorbid cases. CASE REPORT: A 14-year-old girl was referred to Sleep and Epilepsy Unit for excessive daytime sleepiness, impaired nocturnal sleep, binge eating and weight gain, over the last year. After being diagnosed with a NT1 the patient was treated with modafinil and sodium oxybate...
July 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28662344/oral-and-craniofacial-anomalies-of-bardet-biedl-syndrome-dental-management-in-the-context-of-a-rare-disease
#13
A Panny, I Glurich, R M Haws, A Acharya
Standardized guidelines for the oral health management of patients with rare diseases exhibiting morphologic anomalies are currently lacking. This review considers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal condition. Dental anomalies are present in a majority of individuals affected by BBS due to abnormal embryonic orofacial and tooth development. Genetically encoded intrinsic oral structural anomalies and heterogeneous BBS clinical phenotypes and consequent oral comorbidities confound oral health management...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28660389/clinical-and-molecular-characterization-of-prader-willi-syndrome
#14
G N Sanjeeva, Madhuri Maganthi, Himabindu Kodishala, Rohit Kumar R Marol, Pooja S Kulshreshtha, Elisa Lorenzetto, Jayarama S Kadandale, Uros Hladnik, P Raghupathy, Meenakshi Bhat
OBJECTIVES: To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). METHODS: Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis...
June 29, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28658193/genetic-and-environmental-influences-on-sleep-pain-and-depression-symptoms-in-a-community-sample-of-twins
#15
Marianna Gasperi, Matthew Herbert, Ellen Schur, Dedra Buchwald, Niloofar Afari
OBJECTIVE: We used quantitative genetic methods to evaluate whether sleep quality, pain, and depression symptoms share a common genetic diathesis, to estimate the genetic and environmental sources of covariance among these symptoms, and to test for possible causal relationships. METHODS: A community sample of 400 twins from the University of Washington Twin Registry completed standardized self-report questionnaires. We used biometric modeling to assess genetic and environmental contribution to the association between sleep quality measured by the Pittsburgh Sleep Quality Index, pain measured by the Brief Pain Inventory, and depression symptoms measured by the Brief Symptom Inventory...
July 2017: Psychosomatic Medicine
https://www.readbyqxmd.com/read/28652832/cognitive-behavioral-therapy-to-aid-weight-loss-in-obese-patients-current-perspectives
#16
REVIEW
Gianluca Castelnuovo, Giada Pietrabissa, Gian Mauro Manzoni, Roberto Cattivelli, Alessandro Rossi, Margherita Novelli, Giorgia Varallo, Enrico Molinari
Obesity is a chronic condition associated with risk factors for many medical complications and comorbidities such as cardiovascular diseases, some types of cancer, osteoarthritis, hypertension, dyslipidemia, hypercholesterolemia, type-2 diabetes, obstructive sleep apnea syndrome, and different psychosocial issues and psychopathological disorders. Obesity is a highly complex, multifactorial disease: genetic, biological, psychological, behavioral, familial, social, cultural, and environmental factors can influence in different ways...
2017: Psychology Research and Behavior Management
https://www.readbyqxmd.com/read/28652290/imaging-pain-relief-in-osteoarthritis-ipro-protocol-of-a-double-blind-randomised-controlled-mechanistic-study-assessing-pain-relief-and-prediction-of-duloxetine-treatment-outcome
#17
Diane Reckziegel, Helen Bailey, William J Cottam, Christopher R Tench, Ravi P Mahajan, David A Walsh, Roger D Knaggs, Dorothee P Auer
INTRODUCTION: Osteoarthritis (OA) pain is a major cause of long-term disability and chronic pain in the adult population. One in five patients does not receive satisfactory pain relief, which reflects the complexity of chronic pain and the current lack of understanding of mechanisms of chronic pain. Recently, duloxetine has demonstrated clinically relevant pain relief, but only in half of treated patients with OA. Here, the aim is to investigate the neural mechanisms of pain relief and neural signatures that may predict treatment response to duloxetine in chronic knee OA pain...
June 26, 2017: BMJ Open
https://www.readbyqxmd.com/read/28649997/characterizing-sleep-spindles-in-11-630-individuals-from-the-national-sleep-research-resource
#18
S M Purcell, D S Manoach, C Demanuele, B E Cade, S Mariani, R Cox, G Panagiotaropoulou, R Saxena, J Q Pan, J W Smoller, S Redline, R Stickgold
Sleep spindles are characteristic electroencephalogram (EEG) signatures of stage 2 non-rapid eye movement sleep. Implicated in sleep regulation and cognitive functioning, spindles may represent heritable biomarkers of neuropsychiatric disease. Here we characterize spindles in 11,630 individuals aged 4 to 97 years, as a prelude to future genetic studies. Spindle properties are highly reliable but exhibit distinct developmental trajectories. Across the night, we observe complex patterns of age- and frequency-dependent dynamics, including signatures of circadian modulation...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28649630/towards-human-exploration-of-space-the-theseus-review-series-on-muscle-and-bone-research-priorities
#19
Thomas Lang, Jack J W A Van Loon, Susan Bloomfield, Laurence Vico, Angele Chopard, Joern Rittweger, Antonios Kyparos, Dieter Blottner, Ilkka Vuori, Rupert Gerzer, Peter R Cavanagh
Without effective countermeasures, the musculoskeletal system is altered by the microgravity environment of long-duration spaceflight, resulting in atrophy of bone and muscle tissue, as well as in deficits in the function of cartilage, tendons, and vertebral disks. While inflight countermeasures implemented on the International Space Station have evidenced reduction of bone and muscle loss on low-Earth orbit missions of several months in length, important knowledge gaps must be addressed in order to develop effective strategies for managing human musculoskeletal health on exploration class missions well beyond Earth orbit...
2017: NPJ Microgravity
https://www.readbyqxmd.com/read/28646346/adenosine-and-sleep
#20
Michael Lazarus, Jiang-Fan Chen, Zhi-Li Huang, Yoshihiro Urade, Bertil B Fredholm
The classic endogenous somnogen adenosine promotes sleep via A1 and A2A receptors. In this chapter, we present an overview of the current knowledge regarding the regulation of adenosine levels, adenosine receptors, and available pharmacologic and genetic tools to manipulate the adenosine system. This is followed by a summary of current knowledge of the role of adenosine and its receptors in the regulation of sleep and wakefulness. Despite strong data implicating numerous brain areas, including the basal forebrain, the tuberomammillary nucleus, the lateral hypothalamus, and the nucleus accumbens, in the adenosinergic control of sleep, the complete neural circuitry in the brain involved in the sleep-promoting effects of adenosine remains unclear...
June 24, 2017: Handbook of Experimental Pharmacology
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