Two Pedigrees of Familial Advanced Sleep Phase Syndrome in Japan

Satoh, Kohtoku; Mishima, Kazuo; Inoue, Yuichi; Ebisawa, Takashi; Shimizu, Tetsuo

doi:10.1093/sleep/26.4.416

Cited by 90 publications

(48 citation statements)

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“…Another study also identified a family in which ASPS segregates with an autosomal dominant mode of inheritance (160), yet affected family members possess no mutations in any of the three Per genes (39). Similarly, results from two Japanese familial ASPS pedigrees found no linkage between affected individuals and Per2 (172). These latter two studies support the idea of genetic heterogeneity of familial ASPS in humans.…”

Section: Advanced Sleep Phase Syndromesupporting

confidence: 62%

MAMMALIAN CIRCADIAN BIOLOGY: Elucidating Genome-Wide Levels of Temporal Organization

Lowrey

Takahashi

2004

Annu. Rev. Genom. Hum. Genet.

869

727

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During the past decade, the molecular mechanisms underlying the mammalian circadian clock have been defined. A core set of circadian clock genes common to most cells throughout the body code for proteins that feed back to regulate not only their own expression, but also that of clock output genes and pathways throughout the genome. The circadian system represents a complex multioscillatory temporal network in which an ensemble of coupled neurons comprising the principal circadian pacemaker in the suprachiasmatic nucleus of the hypothalamus is entrained to the daily light/dark cycle and subsequently transmits synchronizing signals to local circadian oscillators in peripheral tissues. Only recently has the importance of this system to the regulation of such fundamental biological processes as the cell cycle and metabolism become apparent. A convergence of data from microarray studies, quantitative trait locus analysis, and mutagenesis screens demonstrates the pervasiveness of circadian regulation in biological systems. The importance of maintaining the internal temporal homeostasis conferred by the circadian system is revealed by animal models in which mutations in genes coding for core components of the clock result in disease, including cancer and disturbances to the sleep/wake cycle.

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Section: Advanced Sleep Phase Syndromesupporting

confidence: 62%

MAMMALIAN CIRCADIAN BIOLOGY: Elucidating Genome-Wide Levels of Temporal Organization

Lowrey

Takahashi

2004

Annu. Rev. Genom. Hum. Genet.

869

727

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“…It is possible that another variation, which induces functional change, is in linkage disequilibrium with the T3111C variation and is causal for this evening preference. The Per2 gene C111G variation in the 5' non-translating region (12,13) and the Per3 gene V647G variation (14) have also been associated with diurnal preference of activity.…”

Section: Morningness-eveningness and Clock Genesmentioning

confidence: 99%

Circadian Rhythms in the CNS and Peripheral Clock Disorders: Human Sleep Disorders and Clock Genes

Ebisawa¹

2007

J Pharmacol Sci

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Abstract. Genetic analyses of circadian rhythm sleep disorders (CRSD), such as familial advanced sleep phase syndrome (ASPS) and delayed sleep phase syndrome (DSPS), and morningness-eveningness revealed the relationship between variations in clock genes and diurnal change in human behaviors. Variations such as T3111C in the Clock gene are reportedly associated with morningness-eveningness. Two of the pedigrees of familial ASPS (FASPS) are caused by mutations in clock genes: the S662G mutation in the Per2 gene or the T44A mutation in the casein kinase 1 delta (CK1δ) gene, although these mutations are not found in other pedigrees of FASPS. As for DSPS, a missense variation in the Per3 gene is identified as a risk factor, while the one in the CK1ε gene is thought to be protective. These findings suggest that further, as yet unidentified, gene variations are involved in human circadian activity. Many of the CRSD-relevant variations reported to date seem to affect the phosphorylation status of the clock proteins. A recent study using mathematical models of circadian rhythm generation has provided a new insight into the role of phosphorylation in the molecular mechanisms of these disorders.

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“…113 Genetic analyses revealed a missense mutation in a casein kinase (CK1ε) binding region of a Period gene (hPer2), culminating in hypophosphorylation by CK1ε in vitro. 114 While the importance of this finding cannot be overstated, genetic heterogeneity is apparent among these familial cases, as demonstrated by the fact that other cohorts from this 114 and other studies 115 did not reveal such a mutation. A separate report of a Japanese familial cohort described a missense mutation in a different casein kinase gene (CKIδ), which also resulted in decreased enzymatic activity in vitro.…”

Section: Advanced Sleep Phase Disorder Description and Predisposing Fmentioning

confidence: 60%

Circadian rhythm sleep disorders

Kolla¹,

Auger²,

Morgenthaler³

2012

CPT

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Misalignment between endogenous circadian rhythms and the light/dark cycle can result in pathological disturbances in the form of erratic sleep timing (irregular sleep-wake rhythm), complete dissociation from the light/dark cycle (circadian rhythm sleep disorder, free-running type), delayed sleep timing (delayed sleep phase disorder), or advanced sleep timing (advanced sleep phase disorder). Whereas these four conditions are thought to involve predominantly intrinsic mechanisms, circadian dysrhythmias can also be induced by exogenous challenges, such as those imposed by extreme work schedules or rapid transmeridian travel, which overwhelm the ability of the master clock to entrain with commensurate rapidity, and in turn impair approximation to a desired sleep schedule, as evidenced by the shift work and jet lag sleep disorders. This review will focus on etiological underpinnings, clinical assessments, and evidence-based treatment options for circadian rhythm sleep disorders. Topics are subcategorized when applicable, and if sufficient data exist. The length of text associated with each disorder reflects the abundance of associated literature, complexity of management, overlap of methods for assessment and treatment, and the expected prevalence of each condition within general medical practice.

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Two Pedigrees of Familial Advanced Sleep Phase Syndrome in Japan

Cited by 90 publications

References 0 publications

MAMMALIAN CIRCADIAN BIOLOGY: Elucidating Genome-Wide Levels of Temporal Organization

MAMMALIAN CIRCADIAN BIOLOGY: Elucidating Genome-Wide Levels of Temporal Organization

Circadian Rhythms in the CNS and Peripheral Clock Disorders: Human Sleep Disorders and Clock Genes

Circadian rhythm sleep disorders

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