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Sleep genomics

Sonja Sulkava, Hanna M Ollila, Jukka Alasaari, Sampsa Puttonen, Mikko Härmä, Katriina Viitasalo, Alexandra Lahtinen, Jaana Lindström, Auli Toivola, Raimo Sulkava, Mika Kivimäki, Jussi Vahtera, Timo Partonen, Kaisa Silander, Tarja Porkka-Heiskanen, Tiina Paunio
STUDY OBJECTIVES: Tolerance to shift work varies; only some shift workers suffer from disturbed sleep, fatigue, and job-related exhaustion. Our aim was to explore molecular genetic risk factors for intolerance to shift work. METHODS: We assessed intolerance to shift work with job-related exhaustion symptoms in shift workers using the emotional exhaustion subscale of the Maslach Burnout Inventory - General Survey, and carried out a genome-wide association study (GWAS) using Illumina's Human610-Quad BeadChip (n = 176)...
October 10, 2016: Sleep
Christopher C Angelakos, Adam J Watson, W Timothy O'Brien, Kyle S Krainock, Thomas Nickl-Jockschat, Ted Abel
Sleep disturbances and hyperactivity are prevalent in several neurodevelopmental disorders, including autism spectrum disorders (ASDs) and attention deficit-hyperactivity disorder (ADHD). Evidence from genome-wide association studies indicates that chromosomal copy number variations (CNVs) are associated with increased prevalence of these neurodevelopmental disorders. In particular, CNVs in chromosomal region 16p11.2 profoundly increase the risk for ASD and ADHD, disorders that are more common in males than females...
October 14, 2016: Autism Research: Official Journal of the International Society for Autism Research
José Eduardo Vargas, Leonardo Chicaybam, Renato Tetelbom Stein, Amilcar Tanuri, Andrés Delgado-Cañedo, Martin H Bonamino
Gene therapy protocols require robust and long-term gene expression. For two decades, retrovirus family vectors have offered several attractive properties as stable gene-delivery vehicles. These vectors represent a technology with widespread use in basic biology and translational studies that require persistent gene expression for treatment of several monogenic diseases. Immunogenicity and insertional mutagenesis represent the main obstacles to a wider clinical use of these vectors. Efficient and safe non-viral vectors are emerging as a promising alternative and facilitate clinical gene therapy studies...
October 12, 2016: Journal of Translational Medicine
Kyung Soo Kim, Jin Wook Kwak, Su Jin Lim, Yong Kyun Park, Hoon Shik Yang, Hyun Jik Kim
The main mechanism of pathogenesis which causes systemic complications in obstructive sleep apnea (OSA) patients is believed to be intermittent hypoxia-induced intermediary effect and it depends on the burden of oxidative stress during sleep. We aimed to search the predictive markers which reflect the burden of systemic oxidative stress in patients with OSA and whether excessive telomere length shortening is a characteristic feature that can assess oxidative stress levels. We used quantitative PCR to measure telomere length using peripheral blood genomic DNA...
October 2016: Aging and Disease
Suneel A Narayanavari, Shreevathsa S Chilkunda, Zoltán Ivics, Zsuzsanna Izsvák
Sleeping Beauty (SB) is the first synthetic DNA transposon that was shown to be active in a wide variety of species. Here, we review studies from the last two decades addressing both basic biology and applications of this transposon. We discuss how host-transposon interaction modulates transposition at different steps of the transposition reaction. We also discuss how the transposon was translated for gene delivery and gene discovery purposes. We critically review the system in clinical, pre-clinical and non-clinical settings as a non-viral gene delivery tool in comparison with viral technologies...
October 4, 2016: Critical Reviews in Biochemistry and Molecular Biology
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
STUDY OBJECTIVES: Although recent innovations have enabled modification of the rat genome, it is unclear whether enhanced utility of rodents as human disease models will result. We compared EEG and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD). METHODS: Male Cntnap2 knockout (KO) and wild-type (WT) rats and male Cntnap2 KO and WT mice were implanted with telemeters to record EEG, EMG, body temperature and locomotor activity...
September 26, 2016: Sleep
Luu V Pham, Vsevolod Y Polotsky
No abstract text is available yet for this article.
October 1, 2016: American Journal of Respiratory and Critical Care Medicine
Jinkwan Kim, Seok Jun Lee, Kyung-Mee Choi, Seung Ku Lee, Dae Wui Yoon, Seung Gwan Lee, Chol Shin
Obstructive sleep apnea syndrome (OSA) has been recognized as a common health problem, and increasing obesity rates have led to further remarkable increases in the prevalence of OSA, along with more prominent cardiovascular morbidities. Though previous studies have reported an independent relationship between elevated high sensitivity C-reactive protein (hsCRP) levels and OSA, the issue remains controversial owing to inadequate consideration of obesity and various confounding factors. So far, few population based studies of association between OSA and hsCRP levels have been published...
2016: PloS One
Hayriye Gulbudak, Joshua S Weitz
The canonical view of the interactions between viruses and their microbial hosts presumes that changes in host and virus fate requires the initiation of infection of a host by a virus. Infection may lead to the death of the host cell and release of viruses, to the elimination of the viral genome through cellular defence mechanisms or the integration of the viral genome with the host as a chromosomal or extrachromosomal element. Here, we revisit this canonical view, inspired by recent experimental findings in which the majority of target host cells can be induced into a dormant state when exposed to either active or deactivated viruses, even when viruses are present at low relative titre...
September 28, 2016: Proceedings. Biological Sciences
Antonio Giuditta, Gigliola Grassi-Zucconi, Adolfo G Sadile
Sophisticated methods are currently used to investigate the properties of brain DNA and clarify its role under physiological conditions and in neurological and psychiatric disorders. Attention is now called on a DNA fraction present in the adult rat brain that is characterized by an elevated turnover and is not involved in cell division or DNA repair. The fraction, known as brain metabolic DNA (BMD), is modulated by strain, stress, circadian oscillations, exposure to enriched or impoverished environment, and notably by several training protocols and post-trial sleep...
September 26, 2016: Reviews in the Neurosciences
Robin Dowell, Aaron Odell, Phillip Richmond, Daniel Malmer, Eitan Halper-Stromberg, Beth Bennett, Colin Larson, Sonia Leach, Richard A Radcliffe
The Inbred Long- and Short-Sleep (ILS, ISS) mouse lines were selected for differences in acute ethanol sensitivity using the loss of righting response (LORR) as the selection trait. The lines show an over tenfold difference in LORR and, along with a recombinant inbred panel derived from them (the LXS), have been widely used to dissect the genetic underpinnings of acute ethanol sensitivity. Here we have sequenced the genomes of the ILS and ISS to investigate the DNA variants that contribute to their sensitivity difference...
September 20, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
Olga Roche, María Laura Deguiz, María Tiana, Clara Galiana-Ribote, Daniel Martinez-Alcazar, Carlos Rey-Serra, Beatriz Ranz-Ribeiro, Raquel Casitas, Raúl Galera, Isabel Fernández-Navarro, Silvia Sánchez-Cuéllar, Virginie Bernard, Julio Ancochea, Wyeth W Wasserman, Francisco García-Rio, Benilde Jimenez, Luis Del Peso
A wide range of diseases course with an unbalance between the consumption of oxygen by tissues and its supply. This situation triggers a transcriptional response, mediated by the hypoxia inducible factors (HIFs), that aims to restore oxygen homeostasis. Little is known about the inter-individual variation in this response and its role in the progression of disease. Herein, we sought to identify common genetic variants mapping to hypoxia response elements (HREs) and characterize their effect on transcription...
September 12, 2016: Nucleic Acids Research
Nicole D Osier, Christopher C Imes, Heba Khalil, Jamie Zelazny, Ann E Johansson, Yvette P Conley
Omics approaches, including genomics, transcriptomics, proteomics, epigenomics, microbiomics, and metabolomics, generate large data sets. Once they have been used to address initial study aims, these large data sets are extremely valuable to the greater research community for ancillary investigations. Repurposing available omics data sets provides data to address research questions, generate and test hypotheses, replicate findings, and conduct mega-analyses. Many well-characterized, longitudinal, epidemiological studies collected extensive phenotype data related to symptom occurrence and severity...
September 9, 2016: Biological Research for Nursing
Caroline Scholz, Doris Steinemann, Madeleine Mälzer, Mandy Roy, Mine Arslan-Kirchner, Thomas Illig, Jörg Schmidtke, Manfred Stuhrmann
UNLABELLED: We report on an 8-year-old boy with autism spectrum disorder (ASD), speech delay, behavioural problems, disturbed sleep and macrosomia including macrocephaly carrying a microdeletion that contains the entire NCAM2 gene and no other functional genes. Other family members with the microdeletion show a large skull circumference but do not exhibit any symptoms of autism spectrum disorder. Among many ASD-candidate genes, NCAM2 has been assumed to play a pivotal role in the development of ASD because of its function in the outgrowth and bundling of neurites...
October 2016: European Journal of Medical Genetics
Fabienne Cocchiarella, Maria Carmela Latella, Valentina Basile, Francesca Miselli, Melanie Galla, Carol Imbriano, Alessandra Recchia
The Sleeping Beauty (SB) transposase and, in particular, its hyperactive variant SB100X raises increasing interest for gene therapy application, including genome modification and, more recently, induced pluripotent stem cells (iPS) reprogramming. The documented cytotoxicity of the transposase, when constitutively expressed by an integrating retroviral vector (iRV), has been circumvented by the transient delivery of SB100X using retroviral mRNA transfer. In this study, we developed an alternative, safe, and efficient transposase delivery system based on a tetracycline-ON regulated expression cassette and the rtTA2(S)-M2 transactivator gene transiently delivered by integration-defective lentiviral vectors (IDLVs)...
2016: Molecular Therapy. Methods & Clinical Development
Marcella Marinelli, Irene Pappa, Mariona Bustamante, Carolina Bonilla, Anna Suarez, Carla M Tiesler, Natalia Vilor-Tejedor, Mohammad Hadi Zafarmand, Mar Alvarez-Pedrerol, Sture Andersson, Marian J Bakermans-Kranenburg, Xavier Estivill, David M Evans, Claudia Flexeder, Joan Forns, Juan R Gonzalez, Monica Guxens, Anke Huss, Marinus H van IJzendoorn, Vincent W V Jaddoe, Jordi Julvez, Jari Lahti, Mónica López-Vicente, Maria-Jose Lopez-Espinosa, Judith Manz, Viara R Mileva-Seitz, Markus Perola, Anu-Katriina Pesonen, Fernando Rivadeneira, Perttu P Salo, Shayan Shahand, Holger Schulz, Marie Standl, Elisabeth Thiering, Nicholas J Timpson, Maties Torrent, André G Uitterlinden, George Davey Smith, Marisa Estarlich, Joachim Heinrich, Katri Räikkönen, Tanja G M Vrijkotte, Henning Tiemeier, Jordi Sunyer
STUDY OBJECTIVES: Low or excessive sleep duration has been associated with multiple outcomes, but the biology behind these associations remains elusive. Specifically, genetic studies in children are scarce. In this study, we aimed to: (1) estimate the proportion of genetic variance of sleep duration in children attributed to common single nucleotide polymorphisms (SNPs), (2) identify novel SNPs associated with sleep duration in children, and (3) investigate the genetic overlap of sleep duration in children and related metabolic and psychiatric traits...
October 1, 2016: Sleep
Michael R Irwin, Mark R Opp
Sleep disturbances including insomnia independently contribute to risk of inflammatory disorders, and major depressive disorder. This review and overview provides an integrated understanding of the reciprocal relationships between sleep and the innate immune system and considers the role of sleep in the nocturnal regulation of the inflammatory biology dynamics, the impact of insomnia complaints, extremes of sleep duration, and experimental sleep deprivation on genomic, cellular, and systemic markers of inflammation, and the influence of sleep complaints and insomnia on inflammaging and molecular processes of cellular aging...
August 11, 2016: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
Shilpi Khare, Advait S Nagle, Agnes Biggart, Yin H Lai, Fang Liang, Lauren C Davis, S Whitney Barnes, Casey J N Mathison, Elmarie Myburgh, Mu-Yun Gao, J Robert Gillespie, Xianzhong Liu, Jocelyn L Tan, Monique Stinson, Ianne C Rivera, Jaime Ballard, Vince Yeh, Todd Groessl, Glenn Federe, Hazel X Y Koh, John D Venable, Badry Bursulaya, Michael Shapiro, Pranab K Mishra, Glen Spraggon, Ansgar Brock, Jeremy C Mottram, Frederick S Buckner, Srinivasa P S Rao, Ben G Wen, John R Walker, Tove Tuntland, Valentina Molteni, Richard J Glynne, Frantisek Supek
Chagas disease, leishmaniasis and sleeping sickness affect 20 million people worldwide and lead to more than 50,000 deaths annually1. The diseases are caused by infection with the kinetoplastid parasites Trypanosoma cruzi, Leishmania spp. and Trypanosoma brucei spp., respectively. These parasites have similar biology and genomic sequence, suggesting that all three diseases could be cured with drug(s) modulating the activity of a conserved parasite target2. However, no such molecular targets or broad spectrum drugs have been identified to date...
August 8, 2016: Nature
Hellen E Ahrens, Björn Petersen, Wolf Ramackers, Stoyan Petkov, Doris Herrmann, Janet Hauschild-Quintern, Andrea Lucas-Hahn, Petra Hassel, Maren Ziegler, Wiebke Baars, Sabine Bergmann, Reinhard Schwinzer, Michael Winkler, Heiner Niemann
UNLABELLED: Multiple modifications of the porcine genome are required to prevent rejection after pig-to-primate xenotransplantation. Here, we produced pigs with a knockout of the α1,3-galactosyltransferase gene (GGTA1-KO) combined with transgenic expression of the human anti-apoptotic/anti-inflammatory molecules heme oxygenase-1 and A20, and investigated their xenoprotective properties. METHODS: The GGTA1-KO/human heme oxygenase-1 (hHO-1)/human A20 (hA20) transgenic pigs were produced in a stepwise approach using zinc finger nuclease vectors targeting the GGTA1 gene and a Sleeping Beauty vector coding for hA20...
July 2015: Transplantation Direct
Samuel E Jones, Jessica Tyrrell, Andrew R Wood, Robin N Beaumont, Katherine S Ruth, Marcus A Tuke, Hanieh Yaghootkar, Youna Hu, Maris Teder-Laving, Caroline Hayward, Till Roenneberg, James F Wilson, Fabiola Del Greco, Andrew A Hicks, Chol Shin, Chang-Ho Yun, Seung Ku Lee, Andres Metspalu, Enda M Byrne, Philip R Gehrman, Henning Tiemeier, Karla V Allebrandt, Rachel M Freathy, Anna Murray, David A Hinds, Timothy M Frayling, Michael N Weedon
Disrupted circadian rhythms and reduced sleep duration are associated with several human diseases, particularly obesity and type 2 diabetes, but until recently, little was known about the genetic factors influencing these heritable traits. We performed genome-wide association studies of self-reported chronotype (morning/evening person) and self-reported sleep duration in 128,266 white British individuals from the UK Biobank study. Sixteen variants were associated with chronotype (P<5x10-8), including variants near the known circadian rhythm genes RGS16 (1...
August 2016: PLoS Genetics
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