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The Genetics of Mammalian Circadian Order and Disorder: Implications for Physiology and Disease

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TLDR
Together, these studies set the scene for applying the knowledge of circadian biology to the understanding and treatment of a range of human diseases, including cancer and metabolic and behavioural disorders.
Abstract
Circadian cycles affect a variety of physiological processes, and disruptions of normal circadian biology therefore have the potential to influence a range of disease-related pathways. The genetic basis of circadian rhythms is well studied in model organisms and, more recently, studies of the genetic basis of circadian disorders has confirmed the conservation of key players in circadian biology from invertebrates to humans. In addition, important advances have been made in understanding how these molecules influence physiological functions in tissues throughout the body. Together, these studies set the scene for applying our knowledge of circadian biology to the understanding and treatment of a range of human diseases, including cancer and metabolic and behavioural disorders.

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Journal ArticleDOI

Dysregulation of CLOCK gene expression in hyperoxia-induced lung injury

TL;DR: It is demonstrated that hyperoxia-mediated lung inflammation is associated with alterations in CLock gene expression, and data suggest a dose-dependent increase in CLOCK gene expression with increased oxygen concentrations.
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Early chronotype and tissue-specific alterations of circadian clock function in spontaneously hypertensive rats.

TL;DR: The results revealed that SHR exhibited an early chronotype, because the central SCN clock was phase advanced relative to light/dark cycle and the SCN driven output rhythm ran faster compared to Wistar rats, and the output rhythm was dampened.
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O-GlcNAcylation of BMAL1 regulates circadian rhythms in NIH3T3 fibroblasts.

TL;DR: BMAL1 was modified with an O-linked β-N-acetylglucosamine (O-GlcNAc), which stabilized BMAL1 and enhanced its transcriptional activity, and inhibition of O- GlcNAcylation resulted in inhibition of circadian rhythms of clock gene expression.
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Association of Tef polymorphism with depression in Parkinson disease

TL;DR: Three polymorphisms of circadian genes Cry1, Cry2, and Tef are associated with depression and the relationship between these genes and depression symptoms in Parkinson's disease has not been established.
Journal ArticleDOI

Circadian neurogenetics of mood disorders

TL;DR: The present review describes the current evidence that implicates the clock gene alterations as an important factor in the development of mood-related disorders and describes the possible role of other brain clocks, beyond the SCN, in the circadian control of mood.
References
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Journal Article

A self-assessment questionnaire to determine morningness-eveningness in human circadian rhythms.

TL;DR: Although the questionnaire appears to be valid, further evaluation using a wider subject population is required, as sleep habits are an important déterminant of peak time there are other contibutory factors, and these appear to be partly covered by the questionnaire.
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The role of actigraphy in the study of sleep and circadian rhythms.

TL;DR: It is suggested that in the clinical setting, actigraphy is reliable for evaluating sleep patterns in patients with insomnia, for studying the effect of treatments designed to improve sleep, in the diagnosis of circadian rhythm disorders (including shift work), and in evaluating sleep in individuals who are less likely to tolerate PSG, such as infants and demented elderly.
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Hypothalamic regulation of sleep and circadian rhythms

TL;DR: These findings explain how various drugs affect sleep and wakefulness, and provide the basis for a wide range of environmental influences to shape wake–sleep cycles into the optimal pattern for survival.
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Obesity and Metabolic Syndrome in Circadian Clock Mutant Mice

TL;DR: Estimation of transcripts encoding selected hypothalamic peptides associated with energy balance was attenuated in the Clock mutant mice, suggesting that the circadian clock gene network plays an important role in mammalian energy balance.
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Coordinated transcription of key pathways in the mouse by the circadian clock.

TL;DR: Genetic and genomic analysis suggests that a relatively small number of output genes are directly regulated by core oscillator components, and major processes regulated by the SCN and liver were found to be under circadian regulation.
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