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https://www.readbyqxmd.com/read/29053637/progress-in-genetic-studies-of-tourette-s-syndrome
#1
REVIEW
Yanjie Qi, Yi Zheng, Zhanjiang Li, Lan Xiong
Tourette's Syndrome (TS) is a complex disorder characterized by repetitive, sudden, and involuntary movements or vocalizations, called tics. Tics usually appear in childhood, and their severity varies over time. In addition to frequent tics, people with TS are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep. TS occurs in most populations and ethnic groups worldwide, and it is more common in males than in females...
October 20, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29050555/natural-variation-in-human-clocks
#2
Malcolm von Schantz
Our own species has a diurnal activity pattern and an average circadian period of 24.2h. Exact determination of circadian period requires expensive and intrusive protocols, and investigators are therefore using chronotype questionnaires as a proxy quantitative measure. Both measures show a normal distribution suggestive of a polygenic trait. The genetic components of the 24-h feedback loop that generates circadian rhythms within our cells have been mapped in detail, identifying a number of candidate genes which have been investigated for genetic polymorphisms relating to the phenotypic variance...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/29042894/genetic-association-of-the-period3-per3-clock-gene-with-bipolar-disorder
#3
Paulo Marcos Brasil Rocha, Simone Becho Campos, Fernando Silva Neves, Humberto Corrêa da Silva Filho
OBJECTIVE: Circadian rhythms have been linked to psychiatric disorders such as Depression and Bipolar Disorder (BD). Given previous evidences of sleep/circadian disturbances as well as the genetic susceptibility for BD, we decided to investigate the possible link between the PERIOD3 (Per3) circadian gene and BD. METHODS: This is a genetic association case (BD) vs. control study of the Per3 gene. We further subdivided our BD sample into "good sleepers" (PSQI ≤5) and "poor sleepers" (PSQI>5) according to the Pittsburgh Sleep Quality Index (PSQI) global score, and then we assessed genetic association of the Per3 gene with sleep quality in the BD group...
September 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/29042000/nociceptive-blink-reflex-habituation-biofeedback-in-migraine
#4
M de Tommaso, M Delussi
Reduced habituation of the nociceptive blink reflex (NBR) is considered a trait marker for genetic predisposition to migraine. In this open-label randomized controlled study, we aimed to test the efficacy of a biofeedback training based on learning of habituation of the NBR (NBR biofeedback) compared with pharmacological (topiramate) treatment and NBR biofeedback plus topiramate treatment in a cohort of migraine without aura patients eligible for prophylaxis. Thirty-three migraine patients were randomly assigned to three months of treatment with: 1) NBR biofeedback, 2) NBR biofeedback plus topiramate 50 mg (b...
July 2017: Functional Neurology
https://www.readbyqxmd.com/read/29037340/-neuropsychiatry-of-movement-disorders
#5
Juan Manuel Orjuela-Rojas, Gustavo Adolfo Barrios Vincos, Melisa Alejandra Martínez Gallego
Movement disorders can be defined as neurological syndromes presenting with excessive or diminished automatic or voluntary movements not related to weakness or spasticity. Both Parkinson's disease (PD) and Huntington's disease (HD) are well-known examples of these syndromes. The high prevalence of comorbid psychiatric symptoms like depression, anxiety, obsessive-compulsive symptoms, hallucinations, delusions, impulsivity, sleep disorders, apathy and cognitive impairment mean that these conditions must be regarded as neuropsychiatric diseases...
October 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/29033429/cowden-syndrome-with-a-novel-pten-mutation-presenting-with-partial-epilepsy-related-to-focal-cortical-dysplasia
#6
Tadashi Adachi, Hiroshi Takigawa, Takashi Nomura, Yasuhiro Watanabe, Hisanori Kowa
Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas of the ectoderm and brain. A 36-year-old Japanese man presented with right facial seizure during sleep and was admitted to our hospital. He showed cobblestoning over the tongue and palmar pitting but no neurological abnormalities while he was not having a seizure. Brain magnetic resonance imaging showed focal cortical dysplasia in the left frontal lobe. Electroencephalography showed sharp waves over the left frontal lesion...
October 16, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29032150/functional-analysis-of-schizophrenia-genes-using-geneanalytics-program-and-integrated-databases
#7
Tharani Sundararajan, Ann M Manzardo, Merlin G Butler
Schizophrenia (SCZ) is a chronic debilitating neuropsychiatric disorder with multiple risk factors involving numerous complex genetic influences. We examined and updated a master list of clinically relevant and susceptibility genes associated with SCZ reported in the literature and genomic databases dedicated to gene discovery for characterization of SCZ genes. We used the commercially available GeneAnalytics computer-based gene analysis program and integrated genomic databases to create a molecular profile of the updated list of 608 SCZ genes to model their impact in select categories (tissues and cells, diseases, pathways, biological processes, molecular functions, phenotypes and compounds) using specialized GeneAnalytics algorithms...
October 12, 2017: Gene
https://www.readbyqxmd.com/read/29031747/sleep-phenotypes-in-infants-and-toddlers-with-neurogenetic-syndromes
#8
Emily A Abel, Bridgette L Tonnsen
BACKGROUND: Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29022943/simultaneous-measurement-of-sleep-and-feeding-in-individual-drosophila
#9
Keith R Murphy, Jin Hong Park, Robert Huber, William W Ja
Drosophila is widely used for the dissection of genetic and neuronal mechanisms of behavior. Recently, flies have emerged as a model for investigating the regulation of feeding and sleep. Although typically studied in isolation, increasing evidence points to a fundamental connection between these behaviors. Thus, a system for measuring sleep and feeding simultaneously in a single integrated system is important for interpreting behavioral shifts of either state. Here, we describe the construction and use of the Activity Recording Capillary Feeder or CAFE (ARC), a machine-vision (automated image tracking)-based system for the integrated measurement of sleep and feeding in individual Drosophila...
November 2017: Nature Protocols
https://www.readbyqxmd.com/read/29016847/a-point-mutation-in-the-ion-conduction-pore-of-ampa-receptor-gria3-causes-dramatically-perturbed-sleep-patterns-as-well-as-intellectual-disability
#10
Benjamin Davies, Laurence A Brown, Ondrej Cais, Jake Watson, Amber J Clayton, Veronica T Chang, Daniel Biggs, Christopher Preece, Polinka Hernandez-Pliego, Jon Krohn, Amarjit Bhomra, Stephen R F Twigg, Andrew Rimmer, Alexander Kanapin, Arjune Sen, Zenobia Zaiwalla, Gil McVean, Russell Foster, Peter Donnelly, Jenny C Taylor, Edward Blair, David Nutt, A Radu Aricescu, Ingo H Greger, Stuart N Peirson, Jonathan Flint, Hilary C Martin
The discovery of genetic variants influencing sleep patterns can shed light on the physiological processes underlying sleep. As part of a large clinical sequencing project, WGS500, we sequenced a family in which the two male children had severe developmental delay and a dramatically disturbed sleep-wake cycle, with very long wake and sleep durations, reaching up to 106-h awake and 48-h asleep. The most likely causal variant identified was a novel missense variant in the X-linked GRIA3 gene, which has been implicated in intellectual disability...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28993753/electroencephalography-in-the-diagnosis-of-genetic-generalized-epilepsy-syndromes
#11
REVIEW
Udaya Seneviratne, Mark J Cook, Wendyl Jude D'Souza
Genetic generalized epilepsy (GGE) consists of several syndromes diagnosed and classified on the basis of clinical features and electroencephalographic (EEG) abnormalities. The main EEG feature of GGE is bilateral, synchronous, symmetric, and generalized spike-wave complex. Other classic EEG abnormalities are polyspikes, epileptiform K-complexes and sleep spindles, polyspike-wave discharges, occipital intermittent rhythmic delta activity, eye-closure sensitivity, fixation-off sensitivity, and photoparoxysmal response...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28993411/sleeping-beauty-insertional-mutagenesis-in-mice-identifies-drivers-of-steatosis-associated-hepatic-tumor
#12
Barbara R Tschida, Nuri A Temiz, Timothy P Kuka, Lindsey A Lee, Jesse D Riordan, Carlos A Tierrablanca, Robert Hullsiek, Sandra Wagner, Wendy A Hudson, Michael A Linden, Khalid Amin, Pauline J Beckmann, Rachel A Heuer, Aaron L Sarver, Ju Dong Yang, Lewis R Roberts, Joseph H Nadeau, Adam J Dupuy, Vincent W Keng, David Largaespada
Hepatic steatosis is a strong risk factor for the development of hepatocellular carcinoma (HCC), yet little is known about the molecular pathology associated with this factor. In this study, we performed a forward genetic screen using Sleeping Beauty (SB) transposon insertional mutagenesis in mice treated to induce hepatic steatosis, and compared the results to human HCC data. In humans, we determined that steatosis increased the proportion of female HCC patients, a pattern also reflected in mice. Our genetic screen identified 203 candidate steatosis-associated HCC genes, many of which are altered in human HCC and are members of established HCC-driving signaling pathways...
October 9, 2017: Cancer Research
https://www.readbyqxmd.com/read/28991686/period3-gene-in-disorder-of-consciousness-the-role-of-neuroimaging-in-understanding-the-relationship-between-genotype-and-sleep-a-brief-communication
#13
Gloria Bedini, Anna Bersano, Ludovico D'Incerti, Giorgio Marotta, Cristina Rosazza, Davide Rossi Sebastiano, Silvana Franceschetti, Davide Sattin, Matilde Leonardi, Anna Nigri, Stefania Ferraro, Eugenio Agostino Parati
BACKGROUND: Several methodologies including neuroimaging and sleep evaluation are being developed to complement the clinical bedside examinations in patients with disorder of consciousness (DOC). Recently, we demonstrated a possible association between Period3 (Per3) variable number tandem repeat (VNTR) polymorphism and functional impairment of DOC patients, speculating a possible role of this gene in sleep regulation. AIM: To assess whether the degree of structural and metabolic damage of the main brain areas involved in the sleep generation and homeostasis may influence the different outcome of DOC patients carrying the Per3(5/5) genotype in comparison to Per3(4/4) ones...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28991006/autoimmunity-in-narcolepsy
#14
Melodie Bonvalet, Hanna M Ollila, Aditya Ambati, Emmanuel Mignot
PURPOSE OF REVIEW: Summarize the recent findings in narcolepsy focusing on the environmental and genetic risk factors in disease development. RECENT FINDINGS: Both genetic and epidemiological evidence point towards an autoimmune mechanism in the destruction of orexin/hypocretin neurons. Recent studies suggest both humoral and cellular immune responses in the disease development. SUMMARY: Narcolepsy is a severe sleep disorder, in which neurons producing orexin/hypocretin in the hypothalamus are destroyed...
November 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28985494/the-contribution-of-neanderthals-to-phenotypic-variation-in-modern-humans
#15
Michael Dannemann, Janet Kelso
Assessing the genetic contribution of Neanderthals to non-disease phenotypes in modern humans has been difficult because of the absence of large cohorts for which common phenotype information is available. Using baseline phenotypes collected for 112,000 individuals by the UK Biobank, we can now elaborate on previous findings that identified associations between signatures of positive selection on Neanderthal DNA and various modern human traits but not any specific phenotypic consequences. Here, we show that Neanderthal DNA affects skin tone and hair color, height, sleeping patterns, mood, and smoking status in present-day Europeans...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28984573/sleep-homeostasis-regulated-by-5ht2b-receptor-in-a-small-subset-of-neurons-in-the-dorsal-fan-shaped-body-of-drosophila
#16
Yongjun Qian, Yue Cao, Bowen Deng, Guang Yang, Jiayun Li, Rui Xu, Dandan Zhang, Juan Huang, Yi Rao
Our understanding of molecular mechanisms underlying sleep homeostasis is limited. We have taken a systematic approach to study neural signaling by the transmitter 5-hydroxytryptamine (5-HT) in Drosophila. We have generated knockout and knockin lines for Trh, the 5-HT synthesizing enzyme and all five 5-HT receptors, making it possible for us to determine their expression patterns and to investigate their functional roles. Loss of the Trh, 5HT1a or 5HT2b gene decreased sleep time whereas loss of the Trh or 5HT2b gene diminished sleep rebound after sleep deprivation...
October 6, 2017: ELife
https://www.readbyqxmd.com/read/28981951/-progress-in-genetic-research-on-essential-tremor
#17
Yuwen Zhao, Qiying Sun, Kai Li, Jifeng Guo, Beisha Tang, Xinxiang Yan
Essential tremor (ET) is one of the most common movement disorders. Its clinical manifestations not only include typical kinetic and/or postural tremors, but also other non-motor symptoms such as cognitive dysfunction, sleep disturbance, and dysosmia. The exact etiology and pathogenesis of ET is still unknown. Approximately 60% of ET patients have a family history, and genetic factor plays an important role in the onset of the disease. Researchers have so far identified 3 genetic loci (ETM 1-3) through family studies, and proposed additional causative genes such as FUS, HTRA2, TENM4, NOS3 and susceptibility genes such as LINGO, SLC1A2, and GABA...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981227/-treatment-of-parkinson-s-disease
#18
S Dethy
Parkinson's disease in a neurodegenerative disorder that affects as many as 1-2 % of persons aged 60 years and older. Parkinson's disease occurs infrequently under 40 years of age, with major genetic implication. Alpha-synuclein plays significant pathogenic role in Parkinson's disease. Therapeutic advances based on a synucleinrelated mechanism are now developed : immunotherapy against alpha-synuclein for example. The diagnosis of Parkinson's disease remains mostly clinical. DatScan® may be helpful to distinguish parkinsonian syndrome and essential tremor...
2017: Revue Médicale de Bruxelles
https://www.readbyqxmd.com/read/28978212/overview-of-idiopathic-pulmonary-fibrosis-ipf-and-evidence-based-guidelines
#19
Roozbeh Sharif
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive form of interstitial lung disease (ILD), characterized by fibrosis and worsening lung function, that primarily occurs in those 50 years and older. Various causes including genetic susceptibility, environmental risk factors, and exposures have been suggested in the literature. All of these cause repetitive micro-injury to the lung tissue and vasculature, which triggers a cascade of inflammatory response and fibrosis. Symptoms are nonspecific and most patients present several years after the initial radiographic changes occur...
July 2017: American Journal of Managed Care
https://www.readbyqxmd.com/read/28977668/sleep-duration-mortality-and-heredity-a-prospective-twin-study
#20
Torbjörn Åkerstedt, Jurgita Narusyte, Kristina Alexanderson, Pia Svedberg
Introduction: A number of studies have shown a U-shaped association between sleep duration and mortality. Since sleep duration is partly genetically determined, it seems likely that its association with mortality is also genetically influenced. The purpose of the present study was to investigate the influence on heredity on the association between sleep duration and mortality. Methods: We used a cohort of 14267 twins from the Swedish Twin Registry. Results: A Cox proportional hazards regression analysis, adjusted for a number of covariates, confirmed a clear U shape with a hazard ratio (HR) = 1...
July 29, 2017: Sleep
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