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

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概要

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• 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 <i>Clock</i> 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 <i>Per2</i> gene or the T44A mutation in the <i>casein kinase 1 delta</i> (<i>CK1</i>δ) gene, although these mutations are not found in other pedigrees of FASPS. As for DSPS, a missense variation in the <i>Per3</i> gene is identified as a risk factor, while the one in the <i>CK1</i>ε 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.<br>

• 公益社団法人 日本薬理学会の論文
• 2007-02-20

著者

• Ebisawa Takashi

  Department Of Sleep Disorder Research Graduate School Of Medicine The University Of Tokyo

関連論文

• An association analysis of Per2 with panic disorder in the Japanese population
• Circadian Rhythms in the CNS and Peripheral Clock Disorders : Human Sleep Disorders and Clock Genes

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