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Section 7 - Circadian rhythm sleep disorders

Published online by Cambridge University Press:  05 November 2013

Edited by
Paul Shaw ,
Mehdi Tafti  and
Michael J. Thorpy
Paul Shaw
Affiliation:
University of Washington, St Louis
Mehdi Tafti
Affiliation:
University of Lausanne
Michael J. Thorpy
Affiliation:
Sleep-Wake Disorders Center, Albert Einstein College of Medicine, New York
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Summary

Understanding how sleep-wake schedules are biologically determined via cellular circadian rhythmicity may reveal potential treatments for circadian rhythm sleep disorders (CRSDs). Familial advanced sleep phase (FASP) is the first human Mendelian circadian rhythm trait to be identified. FASP is expected to exhibit an autosomal dominant mode of inheritance, and phenotyping and obtaining DNA from related individuals aids genetic analysis. As self-reported data are subjective, physiological circadian rhythm measurements are crucial for supporting self-reported data. With the advent of high-throughput genotyping methods and growing knowledge of circadian components, novel genetic variants can now be identified through both recombination mapping and candidate approaches. Animal models remain essential for proving genetic causation, especially for evaluating behavioral traits such as sleep-wake timing. This chapter discusses a practical framework for investigating the human genetic basis of sleep and other complex behaviors.
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Chapter
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The Genetic Basis of Sleep and Sleep Disorders , pp. 313 - 334
Publisher: Cambridge University Press
Print publication year: 2013

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