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[Functional polymorphisms in clock genes and circadian rhythm sleep disorders].
1Department of Sleep Disorder Research, Graduate School of Medicine, the University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033 Japan. t-ebisawa@umin.net
Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology
|July 19, 2007
Summary
Genetic variations in biological clock genes are linked to sleep disorders like familial advanced and delayed sleep phase syndromes. These polymorphisms affect clock protein phosphorylation, highlighting the complexity of circadian rhythm regulation.
Area of Science:
- Chronobiology
- Molecular genetics
- Sleep medicine
Background:
- Circadian rhythm sleep disorders are often linked to genetic factors.
- Polymorphisms in core clock genes like Period (Per) and Casein Kinase 1 (CK1) are implicated in sleep disturbances.
- Familial advanced sleep phase syndrome (FASPS) and delayed sleep phase syndrome (DSPS) are examples of such disorders.
Purpose of the Study:
- To investigate the impact of specific gene polymorphisms on circadian rhythm sleep disorders.
- To explore the relationship between genetic variations in clock genes and protein phosphorylation.
- To understand the complex feedback mechanisms within the biological clock system.
Main Methods:
- Analysis of known gene polymorphisms in Per2 (S662G), CK1δ (T44A), Per3 (V647G), and CK1ε (S408N).
- In vitro assessment of enzyme activity for specific CK1 polymorphisms.
- In vivo assays to evaluate the effect of polymorphisms on PER protein phosphorylation.
Main Results:
- Specific mutations in Per2 and CK1δ are associated with Familial advanced sleep phase syndrome.
- Missense polymorphisms in Per3 and CK1ε are linked to increased or decreased risk of Delayed sleep phase syndrome.
- Some CK1 polymorphisms with reduced in vitro activity led to increased PER protein phosphorylation in vivo.
Conclusions:
- Polymorphisms in clock genes significantly contribute to the etiology of circadian rhythm sleep disorders.
- Altered protein phosphorylation is a key mechanism by which these genetic variations affect circadian timing.
- The complex feedback loops of the biological clock require careful consideration when studying these genetic influences.
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