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Sleep genetics

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https://www.readbyqxmd.com/read/28435104/drosophila-pink1-and-parkin-loss-of-function-mutants-display-a-range-of-non-motor-parkinson-s-disease-phenotypes
#1
Hannah Julienne, Edgar Buhl, David S Leslie, James J L Hodge
Parkinson's disease (PD) is more commonly associated with its motor symptoms and the related degeneration of dopamine (DA) neurons. However, it is becoming increasingly clear that PD patients also display a wide range of non-motor symptoms, including memory deficits and disruptions of their sleep-wake cycles. These have a large impact on their quality of life, and often precede the onset of motor symptoms, but their etiology is poorly understood. The fruit fly Drosophila has already been successfully used to model PD, and has been used extensively to study relevant non-motor behaviours in other contexts, but little attention has yet been paid to modelling non-motor symptoms of PD in this genetically tractable organism...
April 20, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28434058/medical-conditions-in-the-first-years-of-life-associated-with-future-diagnosis-of-asd-in-children
#2
Stacey E Alexeeff, Vincent Yau, Yinge Qian, Meghan Davignon, Frances Lynch, Phillip Crawford, Robert Davis, Lisa A Croen
This study examines medical conditions diagnosed prior to the diagnosis of autism spectrum disorder (ASD). Using a matched case control design with 3911 ASD cases and 38,609 controls, we found that 38 out of 79 medical conditions were associated with increased ASD risk. Developmental delay, mental health, and neurology conditions had the strongest associations (ORs 2.0-23.3). Moderately strong associations were observed for nutrition, genetic, ear nose and throat, and sleep conditions (ORs 2.1-3.2). Using machine learning methods, we clustered children based on their medical conditions prior to ASD diagnosis and demonstrated ASD risk stratification...
April 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28432135/molecular-mechanisms-of-sleep-homeostasis-in-flies-and-mammals
#3
Ravi Allada, Chiara Cirelli, Amita Sehgal
Sleep is homeostatically regulated with sleep pressure accumulating with the increasing duration of prior wakefulness. Yet, a clear understanding of the molecular components of the homeostat, as well as the molecular and cellular processes they sense and control to regulate sleep intensity and duration, remain a mystery. Here, we will discuss the cellular and molecular basis of sleep homeostasis, first focusing on the best homeostatic sleep marker in vertebrates, slow wave activity; second, moving to the molecular genetic analysis of sleep homeostasis in the fruit fly Drosophila; and, finally, discussing more systemic aspects of sleep homeostasis...
April 21, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28431366/efficacy-and-safety-of-a-video-eeg-protocol-for-genetic-generalized-epilepsies
#4
Luciana Rodrigues De Marchi, Jeana Torres Corso, Ana Carolina Zetehaku, Carina Gonçalves Pedroso Uchida, Mirian Salvadori Bittar Guaranha, Elza Márcia Targas Yacubian
INTRODUCTION: Video-EEG has been used to characterize genetic generalized epilepsies (GGE). For best performance, sleep recording, photic stimulation, hyperventilation, and neuropsychological protocols are added to the monitoring. However, risks and benefits of these video-EEG protocols are not well established. The aim of this study was to analyze the efficacy and safety of a video-EEG neuropsychological protocol (VNPP) tailored for GGE and compare its value with that of routine EEG (R-EEG)...
April 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28431171/heritability-of-heart-rate-response-to-arousals-in-twins
#5
Xiaoling Gao, Ali Azarbarzin, Brendan T Keenan, Michele Ostrowski, Frances M Pack, Bethany Staley, Greg Maislin, Allan I Pack, Magdy Younes, Samuel T Kuna
Objectives: To determine if the large and highly reproducible inter-individual differences in arousal intensity and heart rate response to arousal (ΔHR) during non-REM sleep are heritable. Methods: Polysomnograms of 55 monozygotic (14 male and 41 female pairs) and 36 dizygotic (15 male and 21 female pairs) same-sex twin pairs were analyzed. Arousals were scored using the 2012 American Academy of Sleep Medicine criteria. Arousal intensity was scaled (between 0 and 9) using an automatic algorithm based on the change in EEG time and frequency characteristics...
April 18, 2017: Sleep
https://www.readbyqxmd.com/read/28427039/low-dose-growth-hormone-treatment-in-infants-and-toddlers-with-prader-willi-syndrome-is-comparable-to-higher-dosage-regimens
#6
Elly Scheermeyer, Mark Harris, Ian Hughes, Patricia A Crock, Geoffrey Ambler, Charles F Verge, Phil Bergman, George Werther, Maria E Craig, Catherine S Choong, Peter S W Davies
OBJECTIVE: Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very young children with Prader-Willi Syndrome (PWS). DESIGN: Prospective longitudinal clinical intervention. METHODS: We evaluated 31 infants (aged 2-12months) and 42 toddlers (13-24months) from the PWS-OZGROW database for height, weight and BMI using the World Health Organization standard deviation scores (SDSWHO) and PWS specific BMI (SDSPWS), bone age, insulin-like growth factor 1 (IGF-I) levels and adverse events over 3years of GHT...
March 24, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28427008/lateral-hypothalamic-circuits-for-sleep-wake-control
#7
REVIEW
Takayuki Yamashita, Akihiro Yamanaka
The lateral hypothalamic area (LHA) of the diencephalon is crucially involved in controlling instinctive behavior such as sleep-wake cycle and feeding behavior. LHA is a heterogeneous structure that contains spatially intermingled, genetically distinct cell populations. Among LHA neurons, orexin/hypocretin (OX) neuron is the key cell type that promotes waking, and specific loss of OX neurons results in narcolepsy. Melanin-concentrating hormone (MCH) containing neurons are known to be active during rapid eye movement (REM) sleep and stimulation of these neurons promotes REM sleep...
April 17, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28426387/characterization-of-bimodal-chronotype-and-its-association-with-sleep-a-population-based-study
#8
Priscila Farias Tempaku, Juliana Ramirez Arruda, Diego Robles Mazzotti, Bruno S B Gonçalves, Mário Pedrazzoli, Lia Bittencourt, Sergio Tufik
The circadian system coordinates internal events in a daily schedule to make sure that the body systems are synchronized to environmental time and internal cues. One important behavioral aspect of the circadian system is the chronotype. It is usually assessed through subjective questionnaires, being the Horne-Ostberg Morningness-Eveningness Questionnaire (MEQ) one of the most used. It classifies individuals into three major categories: morning, evening, and intermediate types. Recently, it has been hypothesized the existence of a fourth chronotype, the bimodal type, through an algorithm derived from the MEQ responses...
2017: Chronobiology International
https://www.readbyqxmd.com/read/28425489/meis1-variant-as-a-determinant-of-autonomic-imbalance-in-restless-legs-syndrome
#9
Jérôme Thireau, Charlotte Farah, Nicolas Molinari, Fabrice Bouilloux, Lucas Torreilles, Juliane Winkelmann, Sabine Scholz, Sylvain Richard, Yves Dauvilliers, Frédéric Marmigère
Restless Legs Syndrome (RLS) is a genetically complex neurological disorder in which overlapping genetic risk factors may contribute to the diversity and heterogeneity of the symptoms. The main goal of the study was to investigate, through analysis of heart rate variability (HRV), whether in RLS patients the MEIS1 polymorphism at risk influences the sympathovagal regulation in different sleep stages. Sixty-four RLS patients with periodic leg movement index above 15 per hour, and 38 controls underwent one night of video-polysomnographic recording...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28424564/new-developments-in-the-management-of-narcolepsy
#10
REVIEW
Vivien C Abad, Christian Guilleminault
Narcolepsy is a life-long, underrecognized sleep disorder that affects 0.02%-0.18% of the US and Western European populations. Genetic predisposition is suspected because of narcolepsy's strong association with HLA DQB1*06-02, and genome-wide association studies have identified polymorphisms in T-cell receptor loci. Narcolepsy pathophysiology is linked to loss of signaling by hypocretin-producing neurons; an autoimmune etiology possibly triggered by some environmental agent may precipitate hypocretin neuronal loss...
2017: Nature and Science of Sleep
https://www.readbyqxmd.com/read/28414966/modeling-sleep-and-neuropsychiatric-disorders-in-zebrafish
#11
REVIEW
Talia Levitas-Djerbi, Lior Appelbaum
What are the molecular and cellular mechanisms that link neurological disorders and sleep disturbances? The transparent zebrafish model could bridge this gap in knowledge due to its unique genetic and imaging toolbox, and amenability to high-throughput screening. Sleep is well-characterized in zebrafish and key regulators of the sleep/wake cycle are conserved, including melatonin and hypocretin/orexin (Hcrt), whereas novel sleep regulating proteins are continually being identified, such as Kcnh4a, Neuromedin U, and QRFP...
April 14, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28414048/light-and-the-laboratory-mouse
#12
Stuart N Peirson, Laurence A Brown, Carina A Pothecary, Lindsay A Benson, Angus S Fisk
Light exerts widespread effects on physiology and behaviour. As well as the widely-appreciated role of light in vision, light also plays a critical role in many non-visual responses, including regulating circadian rhythms, sleep, pupil constriction, heart rate, hormone release and learning and memory. In mammals, responses to light are all mediated via retinal photoreceptors, including the classical rods and cones involved in vision as well as the recently identified melanopsin-expressing photoreceptive retinal ganglion cells (pRGCs)...
April 13, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28410131/substance-use-disorder-a-bio-directional-subset-of-reward-deficiency-syndrome
#13
Kenneth Blum, Mark Gold, Zsolt Demetrovics, Trevor Archer, Panayotis K Thanos, David Baron, Rajendra D Badgaiyan
This commentary is to inform clinicians challenged with an increase in people seeking treatment for Substance Use Disorder (SUD), that the ninety percent revolving door, is, in part, due to post-withdrawal, untreated neurotoxicity. This impairment attenuates neurotransmitter signaling and compromises resting state functional connectivity, leading to unwanted sequelae including depression, sleep disturbances, sensation seeking, lack of satisfaction and impulsivity. Neuroimaging studies indicate that neurobiological recovery can take years...
June 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28409750/clinical-characteristics-of-parkinson-s-disease-developed-from-essential-tremor
#14
Dong-Woo Ryu, Si-Hoon Lee, Yoon-Sang Oh, Jae-Young An, Jeong-Wook Park, In-Uk Song, Kwang-Soo Lee, Joong-Seok Kim
BACKGROUND: Recent genetic and epidemiological studies have shown that there is a link between essential tremor and Parkinson's disease (PD). However, there is a lack of data about the clinical features of PD developed from essential tremor. OBJECTIVE: To explore and describe the clinical characteristics of Parkinson's disease developed from essential tremor (ET-PD). METHODS: Twenty-five ET-PD patients and 124 IPD controls were enrolled according to each criterion...
April 13, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28409245/snca-3-utr-genetic-variants-in-patients-with-parkinson-s-disease-and-rem-sleep-behavior-disorder
#15
M Toffoli, E Dreussi, E Cecchin, M Valente, N Sanvilli, M Montico, S Gagno, M Garziera, M Polano, M Savarese, G Calandra-Buonaura, F Placidi, M Terzaghi, G Toffoli, G L Gigli
REM sleep behavior disorder (RBD) is an early marker of Parkinson's disease (PD); however, it is still unclear which patients with RBD will eventually develop PD. Single nucleotide polymorphisms (SNPs) in the 3'untranslated region (3'UTR) of alpha-synuclein (SNCA) have been associated with PD, but at present, no data is available about RBD. The 3'UTR hosts regulatory regions involved in gene expression control, such as microRNA binding sites. The aim of this study was to determine RBD specific genetic features associated to an increased risk of progression to PD, by sequencing of the SNCA-3'UTR in patients with "idiopathic" RBD (iRBD) and in patients with PD...
April 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28407739/construction-of-a-novel-anaerobic-pathway-in-escherichia-coli-for-propionate-production
#16
Jing Li, Xinna Zhu, Jing Chen, Dongdong Zhao, Xueli Zhang, Changhao Bi
BACKGROUND: Propionate is widely used as an important preservative and important chemical intermediate for synthesis of cellulose fibers, herbicides, perfumes and pharmaceuticals. Biosynthetic propionate has mainly been produced by Propionibacterium, which has various limitations for industrial application. RESULTS: In this study, we engineered E. coli by combining reduced TCA cycle with the native sleeping beauty mutase (Sbm) cycle to construct a redox balanced and energy viable fermentation pathway for anaerobic propionate production...
April 14, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/28407523/glut1-deficiency-syndrome-report-of-a-four-generation-norwegian-family-with-a-mild-phenotype
#17
Anette Ramm-Pettersen, Karl O Nakken, Kathrine C Haavardsholm, Kaja Kristine Selmer
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variation of clinical phenotypes. Familial variants are often milder than de novo cases, and may therefore remain undiagnosed. The aim of this study was to characterize the clinical course of GLUT1-DS in a four-generation Norwegian family where the oldest generations had never received any treatment. METHOD: Through interviews and clinical investigations, we characterized a family of 26 members, where 11 members had symptoms strongly suggesting GLUT1-DS...
April 10, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28402189/going-non-viral-the-sleeping-beauty-transposon-system-breaks-on-through-to-the-clinical-side
#18
Michael Hudecek, Zsuzsanna Izsvák, Sandra Johnen, Matthias Renner, Gabriele Thumann, Zoltán Ivics
Molecular medicine has entered a high-tech age that provides curative treatments of complex genetic diseases through genetically engineered cellular medicinal products. Their clinical implementation requires the ability to stably integrate genetic information through gene transfer vectors in a safe, effective and economically viable manner. The latest generation of Sleeping Beauty (SB) transposon vectors fulfills these requirements, and may overcome limitations associated with viral gene transfer vectors and transient non-viral gene delivery approaches that are prevalent in ongoing pre-clinical and translational research...
April 12, 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28397219/-analysis-of-clinical-phenotype-and-cgh1-gene-mutations-in-a-family-affected-with-dopa-responsive-dystonia
#19
Yaping Yan, Xiaohong Chen, Wei Luo
OBJECTIVE: To explore genetic mutations and clinical features of a pedigree affected with dopa-responsive dystonia. METHODS: PCR and Sanger sequencing were applied to detect mutations of the GCH1 gene among 7 members from the pedigree. RESULTS: The family was detected to have a known heterozygous mutation of the GCH1 gene (c.550C>T). For the 7 members from the pedigree, the age of onset has ranged from 13 to 60 years. The mother of the proband has carried the same mutation but was still healthy at 80...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28394827/fibromyalgia-a-missed-comorbidity-in-spondyloarthritis-prevalence-and-impact-on-assessment-and-treatment
#20
Philip J Mease
PURPOSE OF REVIEW: Fibromyalgia is a clinical representation of the neurobiological phenomenon of central sensitization, characterized by chronic widespread pain, fatigue, sleep disturbance, and other symptoms. Fibromyalgia may occur in conjunction with chronic rheumatic diseases, driven by the effects of chronic pain and inflammation and likely influenced by the patient's genetic and psychoemotional background. This article reviews the data on prevalence of concomitant fibromyalgia and its impact on disease assessment in patients with spondyloarthritis (SpA) and psoriatic arthritis (PsA)...
April 7, 2017: Current Opinion in Rheumatology
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