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The Genetic Basis of Sleep and Sleep Disorders
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  • Edited by Paul Shaw, University of Washington, St Louis, Mehdi Tafti, University of Lausanne, Michael J. Thorpy, Sleep-Wake Disorders Center, Albert Einstein College of Medicine, New York
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Book description

The first comprehensive book on the subject, The Genetic Basis of Sleep and Sleep Disorders covers detailed reviews of the general principles of genetics and genetic techniques in the study of sleep and sleep disorders. The book contains sections on the genetics of circadian rhythms, of normal sleep and wake states and of sleep homeostasis. There are also sections discussing the role of genetics in the understanding of insomnias, hypersomnias including narcolepsy, parasomnias and sleep-related movement disorders. The final chapter highlights the use of gene therapy in sleep disorders. Written by genetic experts and sleep specialists from around the world, the book is up to date and geared specifically to the needs of both researchers and clinicians with an interest in sleep medicine. This book will be an invaluable resource for sleep specialists, neurologists, geneticists, psychiatrists and psychologists.

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  • Chapter 9 - Astroglial regulation of sleep
    pp 84-90
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    This chapter discusses the methodological considerations surrounding linkage and association studies as well as results of both approaches as they relate to sleep and sleep disorders. The initial study of familial advanced sleep phase syndrome (FASPS) that showed it to be inherited in an autosomal dominant fashion was a linkage study on a large family with over 20 affected individuals. For the most part, the risk of narcolepsy to relatives of an affected individual is low (1-2%), albeit higher than the average population risk. Restless leg syndrome (RLS) is fairly common, with the prevalence estimated to be between 1.2 and 15% depending on the population. Complex phenotypes are influenced by multiple genetic and non-genetic factors. These phenotypes cluster in families do not follow any clear mode of inheritance. Complex phenotypes are divided into two classes: continuous and categorical. Genome-wide association study (GWAS) has been recently employed in studying sleep phenotypes.
  • Chapter 12 - Genetic control of the circadian pacemaker
    pp 119-126
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    Restless legs syndrome (RLS) is very common in older subjects, particularly in Western countries such as the United States. RLS can lead to severe insomnia and subsequent daytime hypersomnia. RLS resulted in the first successful results from a genome-wide association study (GWAS) in the field of sleep disorders. Insomnia can present as a primary disorder or as a symptom of comorbid conditions such as chronic pain. Comorbid insomnia is more common in older adults, which in part is a reflection of higher prevalence of comorbid medical conditions and significant progress has been made in identifying the genetic basis of some forms of sleep disorder such as RLS and narcolepsy, the genetic basis of obstructive sleep apnea (OSA) remains to be determined. In the sleep disorders, progress has been made in understanding the etiology of narcolepsy and RLS largely through the application of genome-wide association studies to the phenotypes.
  • Chapter 13 - Epigenetic basis of circadian rhythms and sleep disorders
    pp 127-138
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    There has been a significant increase during the last decades in knowledge of genetics of sleep and sleep disorders, and the genetic epidemiologic studies have considerably contributed to this progress in understanding their basis. The primary goal of genetic epidemiology is the resolution of the genetic architecture of a trait, such as sleep length or a disorder. Electroencephalogram (EEG), a parameter included in polysomnography (PSG), has been found to be one of the most heritable characteristics, with heritability estimates greater than 95%, in a sample of 10 MZ and 10 DZ twin pairs. Most studies indicate that certain sleep problems in childhood are largely influenced by genes. Most parasomnias are relatively common to very common in childhood, occurring clearly less frequently in adults. Clinical experience and many studies indicate that parasomnias are often found to co-occur and run in families.
  • Chapter 15 - Genetic interaction between circadian and homeostatic regulation of sleep
    pp 147-161
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    This chapter reviews the use of genetics in Drosophila to advance sleep research. Short-term memory can be evaluated in flies using an associative learning paradigm, aversive phototaxic suppression (APS). In 2008, the ventral lateral neurons (LNvs) were shown to promote wakefulness [44-46]. The LNvs are an extensively well-studied neuronal group that is a key part of the clock neurons network that controls circadian behaviors such as locomotor activity rhythms. Plasticity and memory consolidation only represent one of potential avenues for pursuing sleep function, many of the studies that have used Drosophila genetics to pursue functional questions focused on the relationship between sleep and plasticity. Along with the growing genetic toolbox it seems that the fly, in combination with human genetic studies, is uniquely poised to push our understanding of sleep mechanisms and function rapidly forward.
  • Chapter 16 - Genetic approaches to understanding circadian entrainment
    pp 162-170
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    This chapter describes the use of the roundworm Caenorhabditis elegans and the zebrafish Danio rerio in sleep research. Vertebrate sleep research has traditionally been performed using mammalian model organisms. Like mammalian sleep, zebrafish sleep is controlled by a homeostatic mechanism. Several studies have shown that mammalian sleep/wake neuropharmacology is broadly conserved in zebrafish, supporting the notion that similar mechanisms regulate sleep in zebrafish and mammals. Genetic screens are a powerful approach to discover mechanisms that underlie biological processes. Logistical challenges limit the use of such screens in mammals. The genetic analysis using cavefish/surface fish hybrids suggests that a small number of genes with dominant effects are responsible for sleep loss in cavefish, and that these genes may differ among independent cave populations. Importantly, the cavefish system offers the unmatched opportunity to understand sleep regulation and evolution within the context of a well-defined ecology.
  • Chapter 17 - Animal models for cognitive deficits induced by sleep deprivation
    pp 171-188
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    Hypocretins (Hcrts) are two secreted neuropeptides, hypocretin-1 and hypocretin-2 that are cleaved from a prepropetide precursor. The locus coeruleus (LC) is adjacent to the fourth ventricle in the brainstem and contains neurons that synthetize the monoamine norepinephrine. Interestingly, physical lesions of the LC do not elicit consistent changes in cortical EEG or behavioral indices of arousal. Optogenetics is a technology in which a genetically encoded neuromodulatory actuator(s) is expressed in a targeted cell type of interest and activated by a specific wavelength of light. Optogenetics has allowed us to make major advances in our understanding of the Hcrt and LC systems, and this technology is applied to dissect other arousal systems as well. The ability to target and selectively manipulate Hcrt and LC neurons allows us the opportunity to study these nuclei in different contexts including rodent models of food intake, addiction, stress, attention, and male sexual arousal.
  • Chapter 18 - Individual differences in sleep duration and responses to sleep loss
    pp 189-196
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    This chapter describes the recent progress on the molecular mechanism of prostaglandin (PG) D2-induced sleep, basic and clinical studies on the roles of PGD2 in physiological sleep regulation, and current and emerging roles of adenosine in regulating sleep. There are two distinct types of PGD synthase (PGDS), one being lipocalin-type PGDS (L-PGDS) and the other, hematopoietic PGDS (H-PGDS). When PGD2 is infused into the subarachnoid space of the basal forebrain of wild-type mice, the region in which DP1 receptors are most abundant, the extracellular adenosine concentration increases in a dose-dependent manner. This increase is absent in DP1 receptor knockout (KO) mice, indicating that the increase in adenosine in the subarachnoid space depends on DP1 receptors. Adenosine deaminase, an enzyme that catabolizes adenosine to inosine, is predominantly localized in the tuberomammilary nucleus (TMN) of the brain.
  • Chapter 19 - Clock polymorphisms associated with human diurnal preference
    pp 197-207
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    The principal classes of glia in the mature brain are astrocytes, microglia and oligodendrocytes. According to the Benington-Heller hypothesis, astrocytic glycogen, which acts as a reserve glucose store for neurons, is depleted during wakefulness and restored during non-rapid-eye-movement (NREM) sleep. Cerebral microglia and oligodendrocytes cells secrete a number of substances in vitro known to influence sleep or brain activity in sleep. As sleep deprivation is associated with an increase in markers of cellular stress, it has been proposed that substances secreted by microglia may play a central role in sleep regulation. An important future area of investigation is to determine the anatomic locations where glial cells exert their effects on sleep and/or brain activity. Glia is dispersed widely in subcortical and cortical brain areas including regions known to trigger sleep and wakefulness. Astrocytic adenosine is likely to be a key mediator of sleep behavior and brain activity.

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